Varaico: Literature-Extracted Genetic Variants

Gene:COL6A3
Variant:p.Y1250S
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COL6A3

NM_004369.4:p.Y1250S

Associated Papers

A type VII collagen subdomain mutant is thermolabile and shows enhanced proteolytic degradability - Implications for the pathogenesis of recessive dystrophic epidermolysis bullosa?

Windler C et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2017

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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."