Varaico: Literature-Extracted Genetic Variants

Gene:PMEL
Variant:p.T372fs
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PMEL

NM_001384361.1:p.T372fs

Associated Papers

Capture of somatic mtDNA point mutations with severe effects on oxidative phosphorylation in synaptosome cybrid clones from human brain.

McKenzie M et al.

Human Mutation, 2014

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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."