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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PMS1

Variant:p.V213L

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PMS1

NM_000534.5:p.V213L

hg38:chr2:189844018 G>C

Associated Papers

Identification of MLH2/hPMS1 dominant mutations that prevent DNA mismatch repair function.

Reyes GX et al.

Communications Biology, 2020

33303966 (PubMed )

Supplement: 42003_2020_1481_MOESM1_ESM.pdf

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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."