Varaico: Literature-Extracted Genetic Variants

Gene:COL6A3
Variant:p.R1331H
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COL6A3

NM_004369.4:p.R1331H

Associated Papers

Whole exome sequencing of 80 cases of sporadic mitral valve prolapse reveals novel disease-associated genes and variants in a Southern Chinese population.

Wang Q et al.

Genes & Genomics, 2025

Environmental and sex-specific molecular signatures of glioma causation.

Claus EB et al.

Neuro-oncology, 2022

MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.

Ikegami M et al.

Communications Biology, 2021

34912045 (PubMed )
Supplement: 42003_2021_2930_MOESM4_ESM.xlsx › Whole_wxome_FFPE

Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family.

Chow YP et al.

Orphanet Journal of Rare Diseases, 2017

28222800 (PubMed )
Supplement: 13023_2017_575_MOESM2_ESM.xlsx › Table_S1
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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."