Varaico: Literature-Extracted Genetic Variants

Gene:PMS1
Variant:p.S13L
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PMS1

NM_000534.5:p.S13L

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

High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.

Razavi P et al.

Nature Medicine, 2019

31768066 (PubMed )
Supplement: NIHMS1541314-supplement-1541314_SourceDataFig1.xlsx › Fig_1e
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