Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.E489G
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MLH1

NM_000249.4:p.E489G

Associated Papers

Disentangling the mutational effects on protein stability and interaction of human MLH1.

Larsen-Ledet S et al.

Plos Genetics, 2025

40294053 (PubMed )
Supplement: pgen.1011681.s018.xlsx › MLH1_data

The impact of pharmacogenetics on radiation therapy outcome in cancer patients. A focus on DNA damage response genes.

Borchiellini D et al.

Cancer Treatment Reviews, 2012

Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption.

Wimmer K et al.

Human Mutation, 2007

Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients.

Wimmer K et al.

Genes, Chromosomes & Cancer, 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."