Varaico: Literature-Extracted Genetic Variants

Gene:DNMT3B
Variant:p.V598A
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DNMT3B

NM_006892.4:p.V598A

Associated Papers

Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.

Weemaes CM et al.

European Journal of Human Genetics : Ejhg, 2013

DNMT3B mutations and DNA methylation defect define two types of ICF syndrome.

Jiang YL et al.

Human Mutation, 2005

Three novel DNMT3B mutations in Japanese patients with ICF syndrome.

Shirohzu H et al.

American Journal of Medical Genetics, 2002

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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."