Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.P144L
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SORD

NM_003104.6:p.P144L

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

Overview of mitochondrial germline variants and mutations in human disease: Focus on breast cancer (Review).

Jiménez-Morales S et al.

International Journal of Oncology, 2018

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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."