Varaico: Literature-Extracted Genetic Variants

Gene:DYSF
Variant:p.I1034M
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DYSF

NM_001130987.2:p.I1034M

Associated Papers

Two common mutations (p.Gln832X and c.663+1G>C) account for about a third of the DYSF mutations in Korean patients with dysferlinopathy.

Park YE et al.

Neuromuscular Disorders : Nmd, 2012

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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."