Varaico: Literature-Extracted Genetic Variants

Gene:DYSF
Variant:p.R1970C
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DYSF

NM_001130987.2:p.R1970C

Associated Papers

4-Phenylbutyrate restores localization and membrane repair to human dysferlin mutations.

Tominaga K et al.

Iscience, 2022

35028538 (PubMed )
Supplement: mmc1.pdf

Deep phenotyping of an international series of patients with late-onset dysferlinopathy.

Fernández-Eulate G et al.

European Journal of Neurology, 2021

Dysferlin mutations and mitochondrial dysfunction.

Vincent AE et al.

Neuromuscular Disorders : Nmd, 2016

Progressive dysphagia in limb-girdle muscular dystrophy type 2B.

Walsh R et al.

Muscle & Nerve, 2011

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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."