Varaico: Literature-Extracted Genetic Variants

Gene:COL6A1
Variant:p.G305W
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COL6A1

NM_001848.3:p.G305W

Associated Papers

Clinical, Pathologic, and Genetic Spectrum of Collagen VI-Related Disorder in China-A Retrospective Observational Multicenter Study.

Hu C et al.

Human Mutation, 2024

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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."