Varaico: Literature-Extracted Genetic Variants

Gene:MBD4
Variant:p.R83fs
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MBD4

NM_001276270.2:p.R83fs

Associated Papers

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

MBD4 guards against methylation damage and germ line deficiency predisposes to clonal hematopoiesis and early-onset AML.

Sanders MA et al.

Blood, 2018

Outlier response to anti-PD1 in uveal melanoma reveals germline MBD4 mutations in hypermutated tumors.

Rodrigues M et al.

Nature Communications, 2018

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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."