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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PMS2

Variant:p.C812S

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PMS2

NM_000535.7:p.C812S

hg38:chr7:5977598 C>G

Associated Papers

The PMS2 subunit of human MutLalpha contains a metal ion binding domain of the iron-dependent repressor protein family.

Kosinski J et al.

Journal of Molecular Biology, 2008

18619468 (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."