rs120074152
×
Entrez Id:
157680
Gene Symbol:
VPS13B
VPS13B
Muscle hypotonia
T
0.700
CausalMutation
CLINVAR
Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.
26104215
2015
rs120074152
×
Entrez Id:
157680
Gene Symbol:
VPS13B
VPS13B
Muscle hypotonia
T
0.700
CausalMutation
CLINVAR
Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders.
22382802
2012
rs120074152
×
Entrez Id:
157680
Gene Symbol:
VPS13B
VPS13B
Muscle hypotonia
T
0.700
CausalMutation
CLINVAR
Clinical variability of genetic isolates of Cohen syndrome.
21418059
2011
rs120074152
×
Entrez Id:
157680
Gene Symbol:
VPS13B
VPS13B
Muscle hypotonia
T
0.700
CausalMutation
CLINVAR
Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome.
20656880
2010
rs120074152
×
Entrez Id:
157680
Gene Symbol:
VPS13B
VPS13B
Muscle hypotonia
T
0.700
CausalMutation
CLINVAR
Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.
19006247
2009
rs120074152
×
Entrez Id:
157680
Gene Symbol:
VPS13B
VPS13B
Muscle hypotonia
T
0.700
CausalMutation
CLINVAR
Clinical and molecular characterization of Italian patients affected by Cohen syndrome.
17990063
2007
rs120074152
×
Entrez Id:
157680
Gene Symbol:
VPS13B
VPS13B
Muscle hypotonia
T
0.700
CausalMutation
CLINVAR
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.
16648375
2006
rs120074152
×
Entrez Id:
157680
Gene Symbol:
VPS13B
VPS13B
Muscle hypotonia
T
0.700
CausalMutation
CLINVAR
Analysis of the human VPS13 gene family.
15498460
2004
rs120074152
×
Entrez Id:
157680
Gene Symbol:
VPS13B
VPS13B
Muscle hypotonia
T
0.700
CausalMutation
CLINVAR
Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.
15141358
2004
rs120074152
×
Entrez Id:
157680
Gene Symbol:
VPS13B
VPS13B
Muscle hypotonia
T
0.700
CausalMutation
CLINVAR
Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport.
12730828
2003
rs120074152
×
Entrez Id:
157680
Gene Symbol:
VPS13B
VPS13B
Muscle hypotonia
T
0.700
CausalMutation
CLINVAR
Cohen syndrome: essential features, natural history, and heterogeneity.
11477603
2001
rs120074152
×
Entrez Id:
157680
Gene Symbol:
VPS13B
VPS13B
Muscle hypotonia
T
0.700
CausalMutation
CLINVAR
Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
9628581
1998