Varaico: Literature-Extracted Genetic Variants

Gene:COL6A1
Variant:p.G269G
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COL6A1

NM_001848.3:p.G269G

Associated Papers

Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.

Baker NL et al.

Human Molecular Genetics, 2005

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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."