Varaico: Literature-Extracted Genetic Variants

Gene:VCAN
Variant:p.G1335Splc
Back to variants list

VCAN

NM_004385.5:p.G1335Splc

Associated Papers

Detailed structural abnormalities associated with a novel VCAN variant in a family with versican vitreoretinopathy.

Zhong A et al.

Ophthalmic Genetics, 2025

Whole-Exome Analysis for Polish Caucasian Patients with Retinal Dystrophies and the Creation of a Reference Genomic Database for the Polish Population.

Matczyńska E et al.

Genes, 2024

VCAN Canonical Splice Site Mutation is Associated With Vitreoretinal Degeneration and Disrupts an MMP Proteolytic Site.

Tang PH et al.

Investigative Ophthalmology & Visual Science, 2019

Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family.

Bigoni S et al.

Frontiers in Genetics, 2018

Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases.

Chen X et al.

Investigative Ophthalmology & Visual Science, 2013

A family with Wagner syndrome with uveitis and a new versican mutation.

Rothschild PR et al.

Molecular Vision, 2013

A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features.

Brézin AP et al.

Molecular Vision, 2011

Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome.

Miyamoto T et al.

Investigative Ophthalmology & Visual Science, 2005

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."