Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.S44A
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MLH1

NM_000249.4:p.S44A

Associated Papers

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

Abildgaard AB et al.

Elife, 2019

Residues in the N-terminal domain of MutL required for mismatch repair in Bacillus subtilis.

Bolz NJ et al.

Journal of Bacteriology, 2012

Classification of mismatch repair gene missense variants with PON-MMR.

Ali H et al.

Human Mutation, 2012

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

Takahashi M et al.

Cancer Research, 2007

Human MutL homolog (MLH1) function in DNA mismatch repair: a prospective screen for missense mutations in the ATPase domain.

Ellison AR et al.

Nucleic Acids Research, 2004

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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."