Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.E89*
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MLH1

NM_000249.4:p.E89*

Associated Papers

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

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

Overview on population screening for carriers with germline mutations in mismatch repair (MMR) genes in China.

Zhang M et al.

Hereditary Cancer in Clinical Practice, 2021

DNA Mismatch Repair Gene Variants in Sporadic Solid Cancers.

Caja F et al.

International Journal of Molecular Sciences, 2020

32756484 (PubMed )
Supplement: ijms-21-05561-s001.zip › SNP_2.0_final.xls › MLH1

Prevalence of hereditary breast and ovarian cancer (HBOC) predisposition gene mutations among 882 HBOC high-risk Chinese individuals.

Shao D et al.

Cancer Science, 2020

31742824 (PubMed )
Supplement: CAS-111-647-s001.xlsx › List_of_pathogenic_mutations

Variants of DNA mismatch repair genes derived from 33,998 Chinese individuals with and without cancer reveal their highly ethnic-specific nature.

Zhang L et al.

European Journal of Cancer (oxford, England : 1990), 2020

Novel LOVD databases for hereditary breast cancer and colorectal cancer genes in the Chinese population.

Pan M et al.

Human Mutation, 2011

Clinical features and hMSH2/hMLH1 germ-line mutations in Chinese patients with hereditary nonpolyposis colorectal cancer.

Shen XS et al.

Chinese Medical Journal, 2008

[Clinical value of screening hereditary nonpolyposis colorectal cancer in China with protocol recommended by NCCN guidelines].

Shen K et al.

Zhonghua Wei Chang Wai Ke Za Zhi = Chinese Journal of Gastrointestinal Surgery, 2008

[Microsatellite analysis and hMLH1/hMSH2 expression detection in young patients with colorectal cancer: value in screening hereditary nonpolyposis colorectal cancer].

Yang L et al.

Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2007

[Clinical features and hMSH2/hMLH1 germline mutation screening of Chinese hereditary nonpolyposis colorectal cancer patients].

Liu SR et al.

Zhonghua Yi Xue Za Zhi, 2004

Report of 16 kindreds and one kindred with hMLH1 germline mutation.

Zhao B et al.

World Journal of Gastroenterology, 2002

Identification of concurrent germ-line mutations in hMSH2 and/or hMLH1 in Japanese hereditary nonpolyposis colorectal cancer kindreds.

Nakahara M et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 1997

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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."