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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:POLH

Variant:p.S288C

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POLH

NM_006502.3:p.S288C

hg38:chr6:43603989 A>T

Associated Papers

The Saccharomyces cerevisiae mitochondrial DNA polymerase and its contribution to the knowledge about human POLG-related disorders.

Gilea AI et al.

Iubmb Life, 2023

37470284 (PubMed )

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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."