Varaico: Literature-Extracted Genetic Variants

Gene:COL6A3
Variant:p.G2059C
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COL6A3

NM_004369.4:p.G2059C

Associated Papers

Retrospective Study Shows That Serum Levels of Chemokine CXCL10 and Cytokine GDF15 Support a Diagnosis of Sporadic Inclusion Body Myositis and Immune-Mediated Necrotizing Myopathy.

De Paepe B et al.

Brain Sciences, 2023

37891738 (PubMed )
Supplement: brainsci-13-01369-s001.zip › brainsci-2620096-supplementary.pdf

Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies.

Butterfield RJ et al.

Human Mutation, 2013

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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."