Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.P649delFs
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MLH1

NM_000249.4:p.P649delFs

Associated Papers

Alleviating misclassified germline variants in underrepresented populations: A strategy using popmax.

Lee NY et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

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

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

Next Generation Sequencing Reveals Novel Mutations in Mismatch Repair Genes and Other Cancer Predisposition Genes in Asian Patients with Suspected Lynch Syndrome.

Ow SGW et al.

Clinical Colorectal Cancer, 2019

Is the controversy on breast cancer as part of the Lynch-related tumor spectrum still open?

Grandval P et al.

Familial Cancer, 2012

Lynch syndrome-associated breast cancers: clinicopathologic characteristics of a case series from the colon cancer family registry.

Walsh MD et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2010

Recurring MLH1 deleterious mutations in unrelated Chinese Lynch syndrome families in Singapore.

Yap HL et al.

Familial Cancer, 2009

Identification of mismatch repair gene mutations in young patients with colorectal cancer and in patients with multiple tumours associated with hereditary non-polyposis colorectal cancer.

Niessen RC et al.

Gut, 2006

MLH1 and MSH2 protein expression as a pre-screening marker in hereditary and non-hereditary endometrial hyperplasia and cancer.

Berends MJ et al.

International Journal of Cancer, 2001

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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."