Varaico: Literature-Extracted Genetic Variants

Gene:PYGM
Variant:p.S814N
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PYGM

NM_005609.4:p.S814N

Associated Papers

[McArdle disease (gycogenosis type V): analysis of clinical, biological and genetic features of five French patients].

Delmont E et al.

Revue Neurologique, 2008

[Symptomatic carriers of dystrophinopathy with chromosome X inactivation bias].

Lesca G et al.

Revue Neurologique, 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."