Skip to search formSkip to main contentSkip to account menu

VPS13B gene

Known as: KIAA0532, vacuolar protein sorting 13 homolog B (yeast), COH1 
National Institutes of Health

Related topics

Related topics

1 relation

Broader (1)

Genes

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
An intronic splice site alteration in combination with a large deletion affecting VPS13B (COH1) causes Cohen syndrome.
2017
2017
The importance of phase analysis in multiexon copy number variation detected by aCGH in autosomal recessive disorder loci
Cohen Syndrome (CS) is a rare autosomal recessive disorder caused by homozygous or compound heterozygous pathogenic variants in… 
2015
2015
Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients
Several retinal dystrophies are associated with syndromic features including such conditions as Bardet–Biedl and Joubert… 
2015
2015
Mutations in ELANE and COH1 ( VPS13B ) Genes Cause Severe Neutropenia in a Patient with Cohen Syndrome
In this case report we describe a patient with cohen syndrome and severe neutropenia. The patient was found to have a mutation of… 
Review
2010
Review
2010
Simple sequence repeats and genome plasticity in 1 Streptococcus agalactiae 2 3 4 5 6
1 Simple sequence repeats (SSRs) and their role in phase variation have been extensively studied in 2 Gram-negative organisms… 
2005
2005
mutations COH1 due to Broader geographical spectrum of Cohen syndrome
1997
1997
Refined Mapping of the Cohen Syndrome Gene by Linkage Disequilibrium
The Cohen syndrome is a rare autosomal recessively inherited disorder. Contrary to many case reports published elsewhere, the… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)