Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.E694A
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MLH1

NM_000249.4:p.E694A

Associated Papers

Returning genetic risk information for hereditary cancers to participants in a population-based cohort study in Japan.

Ohneda K et al.

Journal of Human Genetics, 2025

Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.

Lee JW et al.

Plos One, 2019

31747416 (PubMed )
Supplement: pone.0224227.s002.xlsx › SNV

The importance of proper bioinformatics analysis and clinical interpretation of tumor genomic profiling: a case study of undifferentiated sarcoma and a constitutional pathogenic BRCA2 mutation and an MLH1 variant of uncertain significance.

Varga E et al.

Familial Cancer, 2015

Composite active site of an ABC ATPase: MutS uses ATP to verify mismatch recognition and authorize DNA repair.

Junop MS et al.

Molecular Cell, 2001

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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."