Varaico: Literature-Extracted Genetic Variants

Gene:P3H3
Variant:p.L381P
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P3H3

NM_014262.5:p.L381P

Associated Papers

Disease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis, and helicase activity.

Longley MJ et al.

The Journal of Biological Chemistry, 2010

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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."