Varaico: Literature-Extracted Genetic Variants

Gene:MBD4
Variant:p.S205fs
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MBD4

NM_001276270.2:p.S205fs

Associated Papers

Methyl-CpG binding domain 4, DNA glycosylase (MBD4)-associated neoplasia syndrome associated with a homozygous missense variant in MBD4: Expansion of an emerging phenotype.

Blombery P et al.

British Journal of Haematology, 2022

Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.

Palles C et al.

American Journal of Human Genetics, 2022

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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."