Varaico: Literature-Extracted Genetic Variants

Gene:VCAN
Variant:p.G3089Splc
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VCAN

NM_004385.5:p.G3089Splc

Associated Papers

A novel splicing variant of VCAN identified in a Chinese family initially diagnosed with familial exudative vitreoretinopathy.

Zhong J et al.

Molecular Genetics & Genomic Medicine, 2023

Background splicing as a predictor of aberrant splicing in genetic disease.

Alexieva D et al.

Rna Biology, 2022

35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › Table_S2_DBASS5_index

Identification of Novel Copy Number Variations of VCAN Gene in Three Chinese Families with Wagner Disease.

Li S et al.

Genes, 2020

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

Bigoni S et al.

Frontiers in Genetics, 2018

Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome.

Kloeckener-Gruissem B et al.

European Journal of Human Genetics : Ejhg, 2013

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

Rothschild PR et al.

Molecular Vision, 2013

Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndrome.

Ronan SM et al.

Archives of Ophthalmology (chicago, Ill. : 1960), 2009

Inherited retinal disease-associated uveitis.

Hung JH et al.

Survey of Ophthalmology, 0

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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."