Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.E102V
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MLH1

NM_000249.4:p.E102V

Associated Papers

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 Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2.

Niroula A et al.

Human Mutation, 2015

26333163 (PubMed )
Supplement: supplement_1.pdf

A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants.

Drost M et al.

Human Mutation, 2012

Functional analysis of HNPCC-related missense mutations in MSH2.

Lützen A et al.

Mutation Research, 2008

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