17p13.3-p13.1CNV Type: Deletion-Duplication
Largest CNV size: 6985353 bp
Statistics Box:
Number of Reports: 5
Number of Reports: 5
Summary Information
CNVs within this region were identified in three cases from two recent reports (Kaminsky et al., 2011; Nguyen et al., 2013).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Duplication
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
3570509
1
0
1
nguyen_13_DD/ID/MCA/ASD_discovery_cases
Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
57365
Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
N/A
N/A
6985353
0
2
2
panigrahi_24_ASD/DD/ID_discovery_cases
Patients seen in the Genetic Clinic of a tertiary care center in India in the last six years and screened for chromosomal duplication syndromes.
32
Neurodevelopmental phenotypes observed in individuals from this cohort included autism spectrum disorder (ASD), developmental delay (DD), and intellectual disability (ID).
Age of diagnosis range, 4 mos.-14 yrs. (median 3 yrs.)
78.125% Male
6723989
0
1
1
pham_14_ASD/DD/EP/ID_discovery_cases
Consecutive patient samples submitted to the Medical Genetics Laboratories at Baylor College of Medicine for CMA analysis from Jun 2009-Feb. 2011. Note: CNVs identified in this report were somatic mosaic in nature.
10362
Indication for CMA provided for 8898 cases; 5138 patients with clinical indication of cognitive impairment (primarily developmental delay, intellectual disability, and autism)
N/A
N/A
6800000
1
0
1
sansovic_17_DD/ID/ASD_discovery_cases
Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
337
Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
Mean, 7 years (range, 1 month-25 years)
N/A
6542000
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
nguyen_13_DD/ID/MCA/ASD_discovery_controls
Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
20474
Control
N/A
N/A
N/A
N/A
N/A
N/A
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
nguyen_13_DD/ID/MCA/ASD_discovery_cases
N/A
aCGH
SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
N/A
panigrahi_24_ASD/DD/ID_discovery_cases
India
Array SNP
Affymetrix CytoScan 750K
pham_14_ASD/DD/EP/ID_discovery_cases
N/A
aCGH
BCM V8 OLIGO array
FISH, chromosome analysis
sansovic_17_DD/ID/ASD_discovery_cases
Croatia
aCGH
Agilent SurePrint G3 Unrestricted CGH ISCA v2
Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
nguyen_13_DD/ID/MCA/ASD_discovery_controls
N/A
N/A
N/A
N/A
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002159
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
3601515
7178024
3576510
GRCh38
Deletion
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-2857
N/A
U
DD/ID/MCA
Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)
196494
7128319
6931826
GRCh38
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-4586
N/A
U
Developmental delay/intellectual disability
Database: DECIPHER. Indication for study: Down-turned corners of the mouth, feeding problems in infants, hypertelorism, immunoglobulin abnormality, low-set ears, intellectual disability/developmental delay, palpebral fissures slant down, prominent ears, eyes and forehead, ptosis of eyelids, short neck, short stature, thick lower lip, triangular face, ventricular septal defect
Developmental delay/intellectual disability
1843977
8797227
6953251
GRCh38
Duplication
N/A
panigrahi_24_ASD/DD/ID_discovery_cases-case1
4 yrs.
M
Developmental delay
Global developmental delay, microcephaly, nutritional anemia, failure to thrive, bilateral squint, high arched palate, antimongoloid slant.
150733
6874721
6723989
GRCh38
Duplication
No
pham_14_ASD/DD/EP/ID_discovery_cases-case48
10 yrs.
M
Epilepsy
Indication for study: epilepsy.
197755
7018133
6820379
GRCh38
Mosaic deletion
Yes
sansovic_17_DD/ID/ASD_discovery_cases-case1
6 yrs.
F
Developmental delay/intellectual disability
Developmental delay/intellectual disability
174666
6663587
6488922
GRCh38
Duplication
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002159
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
TAX1BP3,EMC6,HASPIN,RNA5SP434,RYKP1,MFSD1P1,RN7SL774P,GGT6,TXNP4,LINC01996,RNU6-955P,MED11,ZMYND15,TM4SF5,VMO1,GLTPD2,PSMB6,ATP6V0CP1,RN7SL784P,C17orf107,GP1BA,SLC25A11,RNF167,ENO3,MIR6864,MIR6865,ZNF594,RNU6-1264P,BTF3P14,PIMREG,RNA5SP435,TXNDC17,MED31,MIR4520-1,MIR4520-2,RPL23AP73,PRAL,ALOX12,RNASEK,RNASEK-C17orf49,C17orf49,MIR497HG,MIR195,MIR497,SLC16A13,SLC16A11,RPL7AP64,TRPV1,SHPK,CTNS,P2RX5,NCBP3,CAMKK1,P2RX1,LINC01975,CYB5D2,SPNS2,MYBBP1A,ALOX15,PELP1,CXCL16,PLD2,CHRNE,PFN1,SPAG7,INCA1,KIF1C,SLC52A1,ZFP3,USP6,SCIMP,RPAIN,C1QBP,DHX33,DERL2,MIS12,WSCD1,KIAA0753,SLC13A5,XAF1,FBXO39,BCL6B,ASGR2,ASGR1,P2RX5-TAX1BP3,ITGAE,ATP2A3,ZZEF1,UBE2G1,SPNS3,SMTNL2,ARRB2,MINK1,CAMTA2,ZNF232,RABEP1,NUP88,NLRP1,AIPL1,PITPNM3,C17orf100,ALOX15P1,TEKT1,ALOX12P2,ALOX12-AS1,CLEC10A,ANKFY1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-2857
De novo
Unknown
Possibly segregated
RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,MIR1253,OR1D5,OR1E3,OR1G1,OR1P1,OR1A2,OR1D4,OR1D3P,OR3A4P,OR1AC1P,OR1E1,OR3A3,OR1E2,TAX1BP3,EMC6,HASPIN,RNA5SP434,RYKP1,MFSD1P1,RN7SL774P,GGT6,TXNP4,LINC01996,RNU6-955P,MED11,ZMYND15,TM4SF5,VMO1,GLTPD2,PSMB6,ATP6V0CP1,RN7SL784P,C17orf107,GP1BA,SLC25A11,RNF167,ENO3,MIR6864,MIR6865,ZNF594,RNU6-1264P,BTF3P14,PIMREG,RNA5SP435,TXNDC17,MED31,MIR4520-1,MIR4520-2,RPL23AP73,PRAL,ALOX12,RNASEK,RNASEK-C17orf49,C17orf49,MIR497HG,MIR195,MIR497,SLC16A13,SLC16A11,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,CLUH,CCDC92B,OR1D2,OR1A1,OR3A2,OR3A1,SPATA22,ASPA,TRPV1,SHPK,CTNS,P2RX5,NCBP3,CAMKK1,P2RX1,LINC01975,CYB5D2,SPNS2,MYBBP1A,ALOX15,PELP1,CXCL16,PLD2,CHRNE,PFN1,SPAG7,INCA1,KIF1C,SLC52A1,ZFP3,USP6,SCIMP,RPAIN,C1QBP,DHX33,DERL2,MIS12,WSCD1,KIAA0753,SLC13A5,XAF1,FBXO39,BCL6B,ASGR2,RPH3AL,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,RAP1GAP2,TRPV3,P2RX5-TAX1BP3,ITGAE,ATP2A3,ZZEF1,UBE2G1,SPNS3,SMTNL2,ARRB2,MINK1,CAMTA2,ZNF232,RABEP1,NUP88,NLRP1,AIPL1,PITPNM3,C17orf100,ALOX15P1,TEKT1,ALOX12P2,ALOX12-AS1,CLEC10A,ABR,SMG6,ANKFY1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-4586
Unknown
Unknown
Unknown
OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,MIR1253,OR1D5,OR1E3,OR1G1,OR1P1,OR1A2,OR1D4,OR1D3P,OR3A4P,OR1AC1P,OR1E1,OR3A3,OR1E2,TAX1BP3,EMC6,HASPIN,RNA5SP434,RYKP1,MFSD1P1,RN7SL774P,GGT6,TXNP4,LINC01996,RNU6-955P,MED11,ZMYND15,TM4SF5,VMO1,GLTPD2,PSMB6,ATP6V0CP1,RN7SL784P,C17orf107,GP1BA,SLC25A11,RNF167,ENO3,MIR6864,MIR6865,ZNF594,RNU6-1264P,BTF3P14,PIMREG,RNA5SP435,TXNDC17,MED31,MIR4520-1,MIR4520-2,RPL23AP73,PRAL,ALOX12,RNASEK,RNASEK-C17orf49,C17orf49,MIR497HG,MIR195,MIR497,SLC16A13,SLC16A11,RPL7AP64,ACADVL,MIR324,PHF23,CTDNEP1,CLDN7,SLC2A4,GPS2,KCTD11,PLSCR3,TMEM256-PLSCR3,TMEM256,SPEM1,SPEM2,SPEM3,TMEM102,SLC35G6,TNFSF13,EIF4A1,SNORA48,SNORD10,SNORA67,CD68,SOX15,SAT2,EFNB3,RPL29P2,TMEM88,CYB5D1,SCARNA21,KCNAB3,TRAPPC1,MIR4314,HES7,MIR6883,SNORD118,MIR4521,BORCS6,LINC00324,RANGRF,ARHGEF15,ODF4,RPL26,RNF222,RNU7-43P,PPIAP52,SPDYE4,DPH1,SRR,TSR1,MNT,CLUH,CCDC92B,OR1D2,OR1A1,OR3A2,OR3A1,SPATA22,ASPA,TRPV1,SHPK,CTNS,P2RX5,NCBP3,CAMKK1,P2RX1,LINC01975,CYB5D2,SPNS2,MYBBP1A,ALOX15,PELP1,CXCL16,PLD2,CHRNE,PFN1,SPAG7,INCA1,KIF1C,SLC52A1,ZFP3,USP6,SCIMP,RPAIN,C1QBP,DHX33,DERL2,MIS12,WSCD1,KIAA0753,SLC13A5,XAF1,FBXO39,BCL6B,ASGR2,ASGR1,DVL2,GABARAP,ELP5,YBX2,EIF5A,NEURL4,TMEM95,TNK1,NLGN2,FGF11,CHRNB1,POLR2A,TNFSF12,TNFSF12-TNFSF13,SENP3,SENP3-EIF4A1,MPDU1,SHBG,ATP1B2,TP53,WRAP53,KDM6B,CHD3,RNF227,CNTROB,GUCY2D,ALOX15B,ALOX12B,ALOXE3,PER1,VAMP2,TMEM107,AURKB,CTC1,SLC25A35,KRBA2,NDEL1,CCDC42,MFSD6L,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,RAP1GAP2,TRPV3,P2RX5-TAX1BP3,ITGAE,ATP2A3,ZZEF1,UBE2G1,SPNS3,SMTNL2,ARRB2,MINK1,CAMTA2,ZNF232,RABEP1,NUP88,NLRP1,AIPL1,PITPNM3,C17orf100,ALOX15P1,TEKT1,ALOX12P2,ALOX12-AS1,CLEC10A,DLG4,ZBTB4,FXR2,DNAH2,NAA38,PFAS,MYH10,SMG6,ANKFY1,ACAP1
panigrahi_24_ASD/DD/ID_discovery_cases-case1
Unknown
ABR,ASPA,ALOX12P2,ARRB2,CHRNE,ALOX15,ATP2A3,C1QBP,CRK,CTNS,DPH1,ENO3,PELP1,TIMM22,MINK1,GLOD4,MCUR1P1,GEMIN4,ANKFY1,INPP5K,DERL2,TAX1BP3,SMG6-IT1,MED31,TSR1,NCBP3,XAF1,PIMREG,SLC52A1,MRM3,VPS53,DHX33,CXCL16,MIS12,SRR,TLCD3A,METTL16,NXN,CAMKK1,EMC6,TEKT1,ZMYND15,RILP,RPAIN,HASPIN,PITPNM3,SPATA22,ZNF594,TXNDC17,MIR22HG,WDR81,ZFP3,SMYD4,SPNS2,CYB5D2,OVCA2,TXNP4,SLC43A2,GGT6,RTN4RL1,FBXO39,SPNS3,TRPV3,HIC1,GP1BA,ITGAE,VMO1,SLC13A5,TRARG1,SMTNL2,GLTPD2,RFLNB,SCIMP,C17orf100,INCA1,LINC01996,MED11,C17orf97,OR3A4P,MIR212,OR1AC1P,MIR22,MIR132,HNRNPA1P16,EIF4A1P9,SNORD91B,SNORD91A,BHLHA9,OR1D4,TLCD2,RPS4XP17,ZNF594-DT,C17orf107,P2RX5,MNT,NUP88,PAFAH1B1,P2RX1,OR3A2,OR3A1,MYO1C,OR1D2,DBIL5P,BTF3P14,ATP6V0CP1,RPL23AP73,PITPNA-AS1,MFSD1P1,MIR1253,SAMD11P1,MIR3183,LINC02091,MIR4520-1,RPH3AL-AS1,P2RX5-TAX1BP3,ALOX15P1,MIR4520-2,RNA5SP434,ZNF232-AS1,CAMTA2-AS1,RPA1,SERPINF1,SERPINF2,RYKP1,PLD2,PITPNA,PFN1,PSMB6,CCDC92B,MIR6864,KIF1C-AS1,MIR6865,MIR6776,DHX33-DT,LINC01975,RNA5SP435,RN7SL33P,UBE2G1,TRPV1,RN7SL624P,RNU6-1264P,RN7SL784P,RN7SL105P,RN7SL608P,RNU6-955P,RN7SL774P,PRAL,OR1P1,DOC2B,OR3A3,SCARF1,OR1D3P,OR1D5,OR1E2,OR1E3,YWHAE,OR1A1,OR1G1,OR1E1,ZNF232,SLC25A11,ZFP3-DT,C17orf114,TM4SF5,KIAA0753,USP6,RABEP1,OR1R1P,SGSM2,RPH3AL,SPAG7,KIF1C,PRPF8,NLRP1,MYBBP1A,ZZEF1,RAP1GAP2,OR1A2,CAMTA2,SHPK,CLUH,RNF167,SMG6,AIPL1,WSCD1
pham_14_ASD/DD/EP/ID_discovery_cases-case48
FISH and/or chromosome analysis
De novo
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,MIR1253,OR1D5,OR1E3,OR1G1,OR1P1,OR1A2,OR1D4,OR1D3P,OR3A4P,OR1AC1P,OR1E1,OR3A3,OR1E2,TAX1BP3,EMC6,HASPIN,RNA5SP434,RYKP1,MFSD1P1,RN7SL774P,GGT6,TXNP4,LINC01996,RNU6-955P,MED11,ZMYND15,TM4SF5,VMO1,GLTPD2,PSMB6,ATP6V0CP1,RN7SL784P,C17orf107,GP1BA,SLC25A11,RNF167,ENO3,MIR6864,MIR6865,ZNF594,RNU6-1264P,BTF3P14,PIMREG,RNA5SP435,TXNDC17,MED31,MIR4520-1,MIR4520-2,RPL23AP73,PRAL,ALOX12,RNASEK,RNASEK-C17orf49,C17orf49,MIR497HG,MIR195,MIR497,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,CLUH,CCDC92B,OR1D2,OR1A1,OR3A2,OR3A1,SPATA22,ASPA,TRPV1,SHPK,CTNS,P2RX5,NCBP3,CAMKK1,P2RX1,LINC01975,CYB5D2,SPNS2,MYBBP1A,ALOX15,PELP1,CXCL16,PLD2,CHRNE,PFN1,SPAG7,INCA1,KIF1C,SLC52A1,ZFP3,USP6,SCIMP,RPAIN,C1QBP,DHX33,DERL2,MIS12,WSCD1,KIAA0753,SLC13A5,XAF1,FBXO39,RPH3AL,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,RAP1GAP2,TRPV3,P2RX5-TAX1BP3,ITGAE,ATP2A3,ZZEF1,UBE2G1,SPNS3,SMTNL2,ARRB2,MINK1,CAMTA2,ZNF232,RABEP1,NUP88,NLRP1,AIPL1,PITPNM3,C17orf100,ALOX15P1,TEKT1,ALOX12P2,ALOX12-AS1,ABR,SMG6,ANKFY1
sansovic_17_DD/ID/ASD_discovery_cases-case1
Unknown
LINC02091,RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,MIR1253,OR1D5,OR1E3,OR1G1,OR1P1,OR1A2,OR1D4,OR1D3P,OR3A4P,OR1AC1P,OR1E1,OR3A3,OR1E2,TAX1BP3,EMC6,HASPIN,RNA5SP434,RYKP1,MFSD1P1,RN7SL774P,GGT6,TXNP4,LINC01996,RNU6-955P,MED11,ZMYND15,TM4SF5,VMO1,GLTPD2,PSMB6,ATP6V0CP1,RN7SL784P,C17orf107,GP1BA,SLC25A11,RNF167,ENO3,MIR6864,MIR6865,ZNF594,RNU6-1264P,BTF3P14,PIMREG,RNA5SP435,TXNDC17,MED31,MIR4520-1,MIR4520-2,DOC2B,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,CLUH,CCDC92B,OR1D2,OR1A1,OR3A2,OR3A1,SPATA22,ASPA,TRPV1,SHPK,CTNS,P2RX5,NCBP3,CAMKK1,P2RX1,LINC01975,CYB5D2,SPNS2,MYBBP1A,ALOX15,PELP1,CXCL16,PLD2,CHRNE,PFN1,SPAG7,INCA1,KIF1C,SLC52A1,ZFP3,USP6,SCIMP,RPAIN,C1QBP,DHX33,DERL2,MIS12,WSCD1,KIAA0753,RPH3AL,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,RAP1GAP2,TRPV3,P2RX5-TAX1BP3,ITGAE,ATP2A3,ZZEF1,UBE2G1,SPNS3,SMTNL2,ARRB2,MINK1,CAMTA2,ZNF232,RABEP1,NUP88,NLRP1,AIPL1,PITPNM3,C17orf100,ALOX15P1,ABR,SMG6,ANKFY1
Controls
No Control Data Available
No Animal Model Data Available