Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.G101V
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MLH1

NM_000249.4:p.G101V

Associated Papers

Three-step site-directed mutagenesis screen identifies pathogenic MLH1 variants associated with Lynch syndrome.

Houlleberghs H et al.

Journal of Medical Genetics, 2020

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

Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies.

Hardt K et al.

Familial Cancer, 2011

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