Varaico: Literature-Extracted Genetic Variants

Gene:COL6A2
Variant:p.R830W
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COL6A2

NM_001849.4:p.R830W

Associated Papers

Mutations in COL6A Gene Family Responsible for Muscular Dystrophies in Three Unrelated Families.

Soltani N et al.

Iranian Biomedical Journal, 2024

Causative variant profile of collagen VI-related dystrophy in Japan.

Inoue M et al.

Orphanet Journal of Rare Diseases, 2021

Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.

Westra D et al.

Journal of Neuromuscular Diseases, 2019

31127727 (PubMed )
Supplement: sj-xlsx-1-jnd-10.3233_jnd-180376.xlsx › Blad1
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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."