Varaico: Literature-Extracted Genetic Variants

Gene:NTHL1
Variant:p.Q279*
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NTHL1

NM_002528.7:p.Q279*

Associated Papers

Integration of multi-omics data uncovers novel germline susceptibility candidates in early-onset colorectal cancer.

López-Novo A et al.

European Journal of Human Genetics : Ejhg, 2026

Germline Variant Burden Warrants Universal Genetic Testing in Pediatric Myeloid Leukemia.

Harmon LM et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40766138 (PubMed )
Supplement: media-1.pdf

Adenomas from individuals with pathogenic biallelic variants in the MUTYH and NTHL1 genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applications.

Walker R et al.

Translational Oncology, 2025

39793275 (PubMed )
Supplement: mmc1.docx

Adenomas from individuals with pathogenic biallelic variants in the MUTYH and NTHL1 genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applications.

Walker R et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39148833 (PubMed )
Supplement: media-1.pdf

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

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