Varaico: Literature-Extracted Genetic Variants

Gene:DYSF
Variant:p.K179_W180insFs
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DYSF

NM_001130987.2:p.K179_W180insFs

Associated Papers

Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype.

Takahashi T et al.

Neurology, 2003

Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy.

Aoki M et al.

Neurology, 2001

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy.

Liu J et al.

Nature Genetics, 1998

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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."