rs886041185
|
|
Movement Disorders
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.
|
26104215 |
2015 |
rs886041185
|
|
Movement Disorders
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders.
|
22382802 |
2012 |
rs886041185
|
|
Movement Disorders
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Clinical variability of genetic isolates of Cohen syndrome.
|
21418059 |
2011 |
rs886041185
|
|
Movement Disorders
|
TA |
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 |
rs886041185
|
|
Movement Disorders
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.
|
19006247 |
2009 |
rs886041185
|
|
Movement Disorders
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Clinical and molecular characterization of Italian patients affected by Cohen syndrome.
|
17990063 |
2007 |
rs886041185
|
|
Movement Disorders
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.
|
16648375 |
2006 |
rs886041185
|
|
Movement Disorders
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.
|
15141358 |
2004 |
rs886041185
|
|
Movement Disorders
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Analysis of the human VPS13 gene family.
|
15498460 |
2004 |
rs886041185
|
|
Movement Disorders
|
TA |
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 |
rs886041185
|
|
Movement Disorders
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Cohen syndrome: essential features, natural history, and heterogeneity.
|
11477603 |
2001 |
rs886041185
|
|
Movement Disorders
|
TA |
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 |