Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.E37Q
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MLH1

NM_000249.4:p.E37Q

Associated Papers

Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.

Li S et al.

Nature Communications, 2025

41261115 (PubMed )
Supplement: 41467_2025_65164_MOESM1_ESM.pdf

Medulloblastoma associated with Lynch syndrome: a case report of germline MLH1 variant and tumor molecular characterization.

Zheng H et al.

Investigational New Drugs, 2025

Histological and molecular plasticity of ALK-positive non-small-cell lung cancer under targeted therapy: a case report.

Ball M et al.

Cold Spring Harbor Molecular Case Studies, 2022

Evaluation of literature searching tools for curation of mismatch repair gene variants in hereditary colon cancer.

Kaushik V et al.

Advanced Genetics (hoboken, N.j.), 2021

36618447 (PubMed )
Supplement: GGN2-2-e10039-s001.zip › Google_Scholar_and_Mastermind_Search_Data_-_for_Submission.xlsx › Google_Scholar___Mastermind

Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.

Zeng B et al.

Frontiers in Oncology, 2021

33889545 (PubMed )
Supplement: Table_6.xlsx › Sheet1

Evidence for presence of mismatch repair gene expression positive Lynch syndrome cases in India.

Bashyam MD et al.

Molecular Carcinogenesis, 2015

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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."