Varaico: Literature-Extracted Genetic Variants

Gene:PI3
Variant:p.S4C
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PI3

NM_002638.4:p.S4C

Associated Papers

Α rare case of myopathy, lactic acidosis, and severe rhabdomyolysis, due to a homozygous mutation of the ferredoxin-2 (FDX2) gene.

Gkiourtzis N et al.

American Journal of Medical Genetics. Part A, 2023

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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."