Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.S225N
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MLH1

NM_000249.4:p.S225N

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

Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk.

Jia X et al.

American Journal of Human Genetics, 2021

33357406 (PubMed )
Supplement: mmc2.xlsx › TableS4_ValidationSet

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

Ali H et al.

Human Mutation, 2012

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