Varaico: Literature-Extracted Genetic Variants

Gene:NTHL1
Variant:p.R175_S176Splc
Back to variants list

NTHL1

NM_002528.7:p.R175_S176Splc

Associated Papers

Molecular characterization of hereditary breast and ovarian cancer patients from a public precision medicine service in the Southeast Brazilian population.

Ribeiro AAF et al.

Scientific Reports, 2025

Spectrum of germline pathogenic variants in Brazilian hereditary breast/ovarian cancer cases.

Faria JP et al.

Breast Cancer Research and Treatment, 2024

Combined germline and tumor mutation signature testing identifies new families with NTHL1 tumor syndrome.

Pinto C et al.

Frontiers in Genetics, 2023

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_TableS3.xlsx › S3C

Ancestry-specific hereditary cancer panel yields: Moving toward more personalized risk assessment.

Roberts ME et al.

Journal of Genetic Counseling, 2020

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."