Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.H318fs
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MLH1

NM_000249.4:p.H318fs

Associated Papers

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

Morphologic and Genomic Characteristics of Breast Cancers Occurring in Individuals with Lynch Syndrome.

Schwartz CJ et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022

Prevalence of mutations in BRCA and MMR genes in patients affected with hereditary endometrial cancer.

Vietri MT et al.

Medical Oncology (northwood, London, England), 2021

Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms.

De Lellis L et al.

Plos One, 2013

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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."