Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.S577S
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MLH1

NM_000249.4:p.S577S

Associated Papers

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 › MLH1

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf

Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers.

Sjursen W et al.

Journal of Medical Genetics, 2010

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