Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.L676R
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MLH1

NM_000249.4:p.L676R

Associated Papers

Computational and cellular studies reveal structural destabilization and degradation of MLH1 variants in Lynch syndrome.

Abildgaard AB et al.

Elife, 2019

Evaluation of MLH1 variants of unclear significance.

Köger N et al.

Genes, Chromosomes & Cancer, 2018

Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis.

Hinrichsen I et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2013

Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.

Takahashi M et al.

Cancer Research, 2007

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