Varaico: Literature-Extracted Genetic Variants

Gene:PMS1
Variant:p.Y927C
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PMS1

NM_000534.5:p.Y927C

Associated Papers

MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism.

Mejia Maza A et al.

American Journal of Human Genetics, 2026

41443196 (PubMed )
Supplement: mmc2.xlsx › Table_S12

Geographic and age variations in mutational processes in colorectal cancer.

Díaz-Gay M et al.

Nature, 2025

40267983 (PubMed )
Supplement: 41586_2025_9025_MOESM3_ESM.xlsx › Supplementary_Table_55

Geographic and age-related variations in mutational processes in colorectal cancer.

Díaz-Gay M et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40034755 (PubMed )
Supplement: media-5.xlsx › Supplementary_Note_Table_28

Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

DeRycke MS et al.

Molecular Genetics & Genomic Medicine, 2017

28944238 (PubMed )
Supplement: MGG3-5-553-s002.xlsx › ST2
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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."