Varaico: Literature-Extracted Genetic Variants

Gene:PDSS1
Variant:p.D130V
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PDSS1

NM_014317.5:p.D130V

Associated Papers

Increased muscle coenzyme Q10 in riboflavin responsive MADD with ETFDH gene mutations due to secondary mitochondrial proliferation.

Wen B et al.

Molecular Genetics and Metabolism, 2013

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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."