Varaico: Literature-Extracted Genetic Variants

Gene:MLH3
Variant:p.M507V
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MLH3

NM_001040108.2:p.M507V

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

Detection and analysis of common pathogenic germline mutations in Peutz-Jeghers syndrome.

Gu GL et al.

World Journal of Gastroenterology, 2021

Integrated exome and transcriptome sequencing reveals ZAK isoform usage in gastric cancer.

Liu J et al.

Nature Communications, 2014

24807215 (PubMed )
Supplement: ncomms4830-s7.xls › S6-MMR_mutations
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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."