Varaico: Literature-Extracted Genetic Variants

Gene:MMEL1
Variant:p.Q647E
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MMEL1

NM_033467.4:p.Q647E

Associated Papers

Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype.

Takahashi T et al.

Neurology, 2003

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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."