Varaico: Literature-Extracted Genetic Variants

Gene:COL6A3
Variant:p.R724C
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COL6A3

NM_057166.5:p.R724C

Associated Papers

Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.

Lampe AK et al.

Journal of Medical 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."