Varaico: Literature-Extracted Genetic Variants

Gene:COL6A2
Variant:p.V619_I620del2
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COL6A2

NM_001849.4:p.V619_I620del2

Associated Papers

Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain.

Zamurs LK et al.

The Journal of Biological Chemistry, 2015

Collagen VI microfibril formation is abolished by an {alpha}2(VI) von Willebrand factor type A domain mutation in a patient with Ullrich congenital muscular dystrophy.

Tooley LD et al.

The Journal of Biological Chemistry, 2010

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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."