Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.L173R
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MSH6

NM_000179.3:p.L173R

Associated Papers

Identification of SNPs in hMSH3/MSH6 interaction domain affecting the structure and function of MSH2 protein.

Singh S et al.

Biotechnology and Applied Biochemistry, 2022

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 › MSH2

Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis.

Vargas-Parra GM et al.

International Journal of Cancer, 2017

A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.

Rossi BM et al.

Bmc Cancer, 2017

Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants.

Houlleberghs H et al.

Proceedings of the National Academy of Sciences of the United States of America, 2016

Classification of mismatch repair gene missense variants with PON-MMR.

Ali H et al.

Human Mutation, 2012

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