Varaico: Literature-Extracted Genetic Variants

Gene:NTHL1
Variant:p.I168T
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NTHL1

NM_002528.7:p.I168T

Associated Papers

Rare Germline Variants in DNA Repair Genes Detected in BRCA-Negative Finnish Patients with Early-Onset Breast Cancer.

Kurkilahti V et al.

Cancers, 2024

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

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

Pinto C et al.

Frontiers in Genetics, 2023

Whole-Exome Sequencing Identifies Pathogenic Germline Variants in Patients with Lynch-Like Syndrome.

Dos Santos W et al.

Cancers, 2022

36077770 (PubMed )
Supplement: cancers-14-04233-s001.zip › cancers-1703647-Supplementary_Table_S3.xlsx › Supp.Table_S3
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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."