Varaico: Literature-Extracted Genetic Variants

Gene:NTHL1
Variant:p.A148A
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NTHL1

NM_002528.7:p.A148A

Associated Papers

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

Bukowska A et al.

Swiss Medical Weekly, 2025

NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas.

Belhadj S et al.

Scientific Reports, 2019

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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."