Varaico: Literature-Extracted Genetic Variants

Gene:COL6A3
Variant:p.T1140T
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COL6A3

NM_004369.4:p.T1140T

Associated Papers

Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.

Harris E et al.

Orphanet Journal of Rare Diseases, 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."