Varaico: Literature-Extracted Genetic Variants

Gene:LDHA
Variant:p.R171P
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LDHA

NM_005566.4:p.R171P

Associated Papers

Skeletal muscle disorders of glycogenolysis and glycolysis.

Godfrey R et al.

Nature Reviews. Neurology, 2016

First case of missense mutation (LDH-H:R171P) in exon 4 of the lactate dehydrogenase gene detected in a Japanese patient.

Hidaka K et al.

Journal of Human Genetics, 1999

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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."