Varaico: Literature-Extracted Genetic Variants

Gene:MBD4
Variant:p.Q73*
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MBD4

NM_001276270.2:p.Q73*

Associated Papers

Prevalence of germline pathogenic variants in cancer predisposition genes in the Japanese population.

Yamaguchi T et al.

Japanese Journal of Clinical Oncology, 2025

41342546 (PubMed )
Supplement: table_s3_hyaf181.xlsx › Supplemental_Table_3

MBD4-associated neoplasia syndrome: screening of cases with suggestive phenotypes.

Terradas M et al.

European Journal of Human Genetics : Ejhg, 2023

Germline MBD4 Mutations and Predisposition to Uveal Melanoma.

Derrien AC et al.

Journal of the National Cancer Institute, 2021

A germline MBD4 mutation was identified in a patient with colorectal oligopolyposis and early‑onset cancer: A case report.

Tanakaya K et al.

Oncology 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."