Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.P730delFs
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MLH1

NM_000249.4:p.P730delFs

Associated Papers

Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.

Yang W et al.

Journal of Translational Medicine, 2025

41444968 (PubMed )
Supplement: 12967_2025_7595_MOESM1_ESM.xlsx › Table_S1

Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.

Lei H et al.

Human Genomics, 2024

38287404 (PubMed )
Supplement: 40246_2024_573_MOESM3_ESM.xls › MLH1

Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment.

Kurian AW et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2014

Simplified identification of Lynch syndrome: a prospective, multicenter study.

Bonnet D et al.

Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2012

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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."