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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MBD4

Variant:p.K335fs

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MBD4

NM_001276270.2:p.K335fs

hg38:chr3:129436641 TTT>N

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

38060262 (PubMed )

Germline MBD4 Mutations and Predisposition to Uveal Melanoma.

Derrien AC et al.

Journal of the National Cancer Institute, 2021

32239153 (PubMed )

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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."