Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.G101_E102delFs
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MLH1

NM_000249.4:p.G101_E102delFs

Associated Papers

Whole genome sequencing completes the molecular genetic testing workflow of patients with Lynch syndrome.

Horti-Oravecz K et al.

Npj Genomic Medicine, 2025

RNA Panel Sequencing Is an Effective Tool to Help Classify Splice Variants for Clinical Oncogenetic Diagnosis.

Privat M et al.

Human Mutation, 2024

Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes.

Landrith T et al.

Npj Precision Oncology, 2020

32133419 (PubMed )
Supplement: 41698_2020_109_MOESM1_ESM.pdf

Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.

Thompson BA et al.

Frontiers in Genetics, 2020

32849802 (PubMed )
Supplement: Data_Sheet_1.xlsx › Supplementary_Table_3

Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer.

Karam R et al.

Jama Network Open, 2019

31642931 (PubMed )
Supplement: jamanetwopen-2-e1913900-s001.pdf
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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."