Varaico: Literature-Extracted Genetic Variants

Gene:COX15
Variant:p.S391P
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COX15

NM_078470.6:p.S391P

Associated Papers

Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy.

Antonicka H et al.

American Journal of Human Genetics, 2003

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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."