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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PTK6

Variant:p.E379E

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PTK6

NM_005975.4:p.E379E

hg38:chr20:63530109 C>T

Associated Papers

Mitochondrial POLG mutation, mtDNA depletion, and cardiomyopathy.

Lasota J

Laboratory Investigation; a Journal of Technical Methods and Pathology, 2007

17486695 (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."