Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.S269L
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MLH1

NM_000249.4:p.S269L

Associated Papers

Molecular Basis of Inherited Colorectal Carcinomas in the Macedonian Population: An Update.

Staninova-Stojovska M et al.

Balkan Journal of Medical Genetics : Bjmg, 2019

The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations.

Durno CA et al.

The American Journal of Gastroenterology, 2010

In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.

Lastella P et al.

Bmc Genomics, 2006

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."