Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.R470Splc
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MLH1

NM_000249.4:p.R470Splc

Associated Papers

Investigating somatic variants and pathways in mismatch repair-deficient (dMMR) colorectal carcinoma in South Africa.

Aldera AP et al.

Journal of Clinical Pathology, 2025

Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.

Lei H et al.

Human Genomics, 2024

38287404 (PubMed )
Supplement: 40246_2024_573_MOESM3_ESM.xls › MLH1

Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.

Pantaleo A et al.

Cancers, 2023

38201484 (PubMed )
Supplement: cancers-16-00056-s001.zip › Table_S3_Proof_final_version.xlsx › MLH1

Clinical Significance of Germline Pathogenic Variants among 51 Cancer Predisposition Genes in an Unselected Cohort of Italian Pancreatic Cancer Patients.

Puccini A et al.

Cancers, 2022

36139606 (PubMed )
Supplement: cancers-14-04447-s001.zip › cancers-1881458-supplementary.pdf

Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Qin Z et al.

Life Science Alliance, 2022

35595529 (PubMed )
Supplement: LSA-2021-01319_TableS1.xlsx › Sheet_1

Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.

Kondrashova O et al.

Cancers, 2021

33917078 (PubMed )
Supplement: cancers-13-01762-s001.zip › Kondrashova_etal_Supp_Tables.xlsx › Table_S5

Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.

He KY et al.

Plos One, 2016

27930734 (PubMed )
Supplement: pone.0167847.s002.xls › S2
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