Varaico: Literature-Extracted Genetic Variants

Gene:NTHL1
Variant:p.E39Splc
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NTHL1

NM_002528.7:p.E39Splc

Associated Papers

Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.

Li J et al.

Genes & Diseases, 2026

41624906 (PubMed )
Supplement: mmc1.xlsx › Sheet1

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

Faria JP et al.

Breast Cancer Research and Treatment, 2024

Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.

Zhao B et al.

Bmc Cancer, 2024

38575974 (PubMed )
Supplement: 12885_2024_12160_MOESM6_ESM.xlsx › Sheet1

Frequency of pathogenic germline variants in pediatric medulloblastoma survivors.

Rees D et al.

Frontiers in Oncology, 2024

39184053 (PubMed )
Supplement: DataSheet_2.xlsx › Supp_Table_3

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 › S3B
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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."