Varaico: Literature-Extracted Genetic Variants

Gene:PGAM4
Variant:p.R10Q
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PGAM4

NM_001029891.3:p.R10Q

Associated Papers

Unusual presentation of phosphoglycerate mutase deficiency due to two different mutations in PGAM-M gene.

Tonin P et al.

Neuromuscular Disorders : Nmd, 2009

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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."