Varaico: Literature-Extracted Genetic Variants

Gene:DYSF
Variant:p.T2073A
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DYSF

NM_001130987.2:p.T2073A

Associated Papers

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

Tominaga K et al.

Iscience, 2022

35028538 (PubMed )
Supplement: mmc1.pdf

[Amyloidosis in muscular dystrophy].

Carl M et al.

Der Pathologe, 2009

Dysferlin-deficient muscular dystrophy features amyloidosis.

Spuler S et al.

Annals of Neurology, 2008

Painful enlargement of the calf muscles in limb girdle muscular dystrophy type 2B (LGMD2B) with a novel compound heterozygous mutation in DYSF.

Diers A et al.

Neuromuscular Disorders : Nmd, 2007

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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."