Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.R385P
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MLH1

NM_000249.4:p.R385P

Associated Papers

A conserved motif in the disordered linker of human MLH1 is vital for DNA mismatch repair and its function is diminished by a cancer family mutation.

Wolf K et al.

Nucleic Acids Research, 2023

Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2.

Genuardi M et al.

European Journal of Human Genetics : Ejhg, 0

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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."