Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.D484delFs
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MLH1

NM_000249.4:p.D484delFs

Associated Papers

Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.

Mian A et al.

Bjui Compass, 2023

36816149 (PubMed )
Supplement: BCO2-4-156-s001.xlsx › sTable_1

Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.

Ferrer-Avargues R et al.

Cancer Communications (london, England), 2021

33630411 (PubMed )
Supplement: CAC2-41-218-s001.xlsx › Table_S1_

Exome sequencing and characterization of 49,960 individuals in the UK Biobank.

Van Hout CV et al.

Nature, 2020

33087929 (PubMed )
Supplement: 41586_2020_2853_MOESM11_ESM.xlsx › Sheet1

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

Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.

Sjursen W et al.

Molecular Genetics & Genomic Medicine, 2016

Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing.

Chubb D et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2015

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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."