Varaico: Literature-Extracted Genetic Variants

Gene:VCAN
Variant:p.G1335Splc
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VCAN

NM_004385.5:p.G1335Splc

Associated Papers

The synthesis and secretion of versican isoform V3 by mammalian cells: A role for N-linked glycosylation.

Harten IA et al.

Matrix Biology : Journal of the International Society for Matrix Biology, 2020

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

Bigoni S et al.

Frontiers in Genetics, 2018

Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in Stargardt Disease.

Sangermano R et al.

Ophthalmology, 2016

Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.

Caminsky N et al.

F1000research, 2014

25717368 (PubMed )
Supplement: f1000research-3-6038-s0000.tgz › e0d3facd-5877-477e-9217-8c5aa68746f2_Supplementary-Tables-11112014.zip › Supplementary-Tables-and-Figures-11112014 › Supplementary_Table_10._Splicing_Mutation_Calculator_Source_Datav2.xlsx › Supplementary_Table_10

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

Rothschild PR et al.

Molecular Vision, 2013

Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.

Mukhopadhyay A et al.

Investigative Ophthalmology & Visual Science, 2006

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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."