Varaico: Literature-Extracted Genetic Variants

Gene:DYSF
Variant:p.R1058del1
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DYSF

NM_001130987.2:p.R1058del1

Associated Papers

[Dysferlin expression in limb-girdle muscular dystrophy and Miyoshi myopathy: analysis of 45 cases].

Ren SC et al.

Zhonghua Yi Xue Za Zhi, 2007

Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy.

Kawabe K et al.

European Journal of Neurology, 2004

Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype.

Takahashi T et al.

Neurology, 2003

Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies).

Anderson LV et al.

Neuromuscular Disorders : Nmd, 2000

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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."