Varaico: Literature-Extracted Genetic Variants

Gene:PYGM
Variant:p.T395M
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PYGM

NM_005609.4:p.T395M

Associated Papers

Determining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing data.

De Castro M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015

LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias.

Johansen CT et al.

Journal of Lipid Research, 2014

24503134 (PubMed )
Supplement: supp_D045963_jlr.D045963-1.pdf
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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."