Varaico: Literature-Extracted Genetic Variants

Gene:NTHL1
Variant:p.L130L
Back to variants list

NTHL1

NM_002528.7:p.L130L

Associated Papers

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

Bukowska A et al.

Swiss Medical Weekly, 2025

Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects.

Li N et al.

Npj Breast Cancer, 2021

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
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."