Varaico: Literature-Extracted Genetic Variants

Gene:NTHL1
Variant:p.R92C
Back to variants list

NTHL1

NM_002528.7:p.R92C

Associated Papers

Molecular Basis of Adenomatous Gastrointestinal Polyposis Syndromes: Role of Pathogenic and Benign Variants in Disease Onset.

Cammarota F et al.

Biomedicines, 2026

Genotype-phenotype correlations in NTHL1-associated tumour syndrome: case report and literature review.

Bukowska A et al.

Swiss Medical Weekly, 2025

NTHL1 Gene Mutations in Polish Polyposis Patients-Weighty Player or Vague Background?

Grot N et al.

International Journal of Molecular Sciences, 2023

Genetic analyses of DNA repair pathway associated genes implicate new candidate cancer predisposing genes in ancestrally defined ovarian cancer cases.

Alenezi WM et al.

Frontiers in Oncology, 2023

36969007 (PubMed )
Supplement: DataSheet_1.zip › Supplementary_Tables.XLSX › Table_S6

Filling the gap: A thorough investigation for the genetic diagnosis of unsolved polyposis patients with monoallelic MUTYH pathogenic variants.

Dell'Elice A et al.

Molecular Genetics & Genomic Medicine, 2021

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."