Varaico: Literature-Extracted Genetic Variants

Gene:COL6A3
Variant:p.R1660C
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COL6A3

NM_004369.4:p.R1660C

Associated Papers

Structure of a collagen VI α3 chain VWA domain array: adaptability and functional implications of myopathy causing mutations.

Solomon-Degefa H et al.

The Journal of Biological Chemistry, 2020

Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum.

Marakhonov AV et al.

Gene, 2018

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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."