Varaico: Literature-Extracted Genetic Variants

Gene:MBD4
Variant:p.S112Splc
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MBD4

NM_001276270.2:p.S112Splc

Associated Papers

Genetic susceptibility in early-onset melanoma: An observational Greek cohort study.

Chatziioannou E et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2025

Somatic CpG hypermutation is associated with mismatch repair deficiency in cancer.

Flynn A et al.

Molecular Systems Biology, 2024

39026103 (PubMed )
Supplement: 44320_2024_54_MOESM1_ESM.xlsx › TableS1

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

Germline MBD4 Mutations and Predisposition to Uveal Melanoma.

Derrien AC et al.

Journal of the National Cancer Institute, 2021

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."