Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.M1_S2insFs
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MLH1

NM_000249.4:p.M1_S2insFs

Associated Papers

Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.

Zhang L et al.

Journal of Medical Genetics, 2022

34172528 (PubMed )
Supplement: jmedgenet-2021-107886supp006.xlsx › MLH1

Characterization of a germline splice site variant MLH1 c.678-3T>A in a Lynch syndrome family.

Yang C et al.

Familial Cancer, 2020

Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics.

Arnold S et al.

Human Mutation, 2009

Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer.

Mangold E et al.

International Journal of Cancer, 2005

Value of predictive genetic testing in management of hereditary non-polyposis colorectal cancer (HNPCC)

Stanley AJ et al.

The Medical Journal of Australia, 2000

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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."