Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.*757insFs
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MLH1

NM_000249.4:p.*757insFs

Associated Papers

Muir-Torre Syndrome and founder mismatch repair gene mutations: A long gone historical genetic challenge.

Ponti G et al.

Gene, 2016

Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome.

Ponti G et al.

Clinical Genetics, 2015

[Detection of a founder mutation in an Argentine family with hereditary non polyposis colorectal cancer].

Gómez L et al.

Medicina, 2010

Frequency of constitutional MSH6 mutations in a consecutive series of families with clinical suspicion of HNPCC.

Roncari B et al.

Clinical Genetics, 2007

Genotype-phenotype correlations in individuals with a founder mutation in the MLH1 gene and hereditary non-polyposis colorectal cancer.

de Leon MP et al.

Scandinavian Journal of Gastroenterology, 2007

Putative common origin of two MLH1 mutations in Italian-Quebec hereditary non-polyposis colorectal cancer families.

Thiffault I et al.

Clinical Genetics, 2004

A founder MLH1 mutation in families from the districts of Modena and Reggio-Emilia in northern Italy with hereditary non-polyposis colorectal cancer associated with protein elongation and instability.

Caluseriu O et al.

Journal of Medical Genetics, 2004

Hereditary nonpolyposis colorectal cancer: an approach to the selection of candidates to genetic testing based on clinical and molecular characteristics.

Viel A et al.

Community Genetics, 1998

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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."