Varaico: Literature-Extracted Genetic Variants

Gene:MBD4
Variant:p.R181*
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MBD4

NM_001276270.2:p.R181*

Associated Papers

Familial uveal melanoma and other tumors in 25 families with monoallelic germline MBD4 variants.

Villy MC et al.

Journal of the National Cancer Institute, 2024

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

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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."