Varaico: Literature-Extracted Genetic Variants

Gene:DNMT3B
Variant:p.R826H
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DNMT3B

NM_006892.4:p.R826H

Associated Papers

DNMT3B deficiency presenting as severe combined immune deficiency: A case report.

Mehawej C et al.

Clinical Immunology (orlando, Fla.), 2020

[Clinical and genetic manifestations of immunodeficiency, centromeric instability, and facial anomalies syndrome: a case report and literature review].

Hu SC et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2019

The gene mutations and subtelomeric DNA methylation in immunodeficiency, centromeric instability and facial anomalies syndrome.

Hu H et al.

Autoimmunity, 0

Insights into S-adenosyl-l-methionine (SAM)-dependent methyltransferase related diseases and genetic polymorphisms.

Li J et al.

Mutation Research. Reviews in Mutation Research, 0

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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."