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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CSH1

Variant:p.D156V

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CSH1

NM_001317.6:p.D156V

hg38:chr17:63895209 T>A

Associated Papers

De Novo Development of mtDNA Deletion Due to Decreased POLG and SSBP1 Expression in Humans.

Lee Y et al.

Genes, 2021

33671400 (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."