Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.A586delFs
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MLH1

NM_000249.4:p.A586delFs

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

Significant detection of new germline pathogenic variants in Australian Pancreatic Cancer Screening Program participants.

Murali K et al.

Hereditary Cancer in Clinical Practice, 2021

Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.

Chubb D et al.

Nature Communications, 2016

27329137 (PubMed )
Supplement: ncomms11883-s1.pdf

BRAFV600E immunohistochemistry facilitates universal screening of colorectal cancers for Lynch syndrome.

Toon CW et al.

The American Journal of Surgical Pathology, 2013

Comprehensive NF1 screening on cultured Schwann cells from neurofibromas.

Maertens O et al.

Human Mutation, 2006

Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA.

Taylor CF et al.

Human Mutation, 2003

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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."