Varaico: Literature-Extracted Genetic Variants

Gene:MPL
Variant:p.N178delFs
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MPL

NM_005373.3:p.N178delFs

Associated Papers

Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): a genotype-phenotype correlation study.

Martín MA et al.

Annals of Neurology, 2001

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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."