Varaico: Literature-Extracted Genetic Variants

Gene:DYSF
Variant:p.P1020insFs
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DYSF

NM_003494.4:p.P1020insFs

Associated Papers

Dysferlin mutations and mitochondrial dysfunction.

Vincent AE et al.

Neuromuscular Disorders : Nmd, 2016

Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial.

Walter MC et al.

Orphanet Journal of Rare Diseases, 2013

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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."