Varaico: Literature-Extracted Genetic Variants

Gene:DNMT3B
Variant:p.V613A
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DNMT3B

NM_006892.4:p.V613A

Associated Papers

Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.

Quinn J et al.

Frontiers in Immunology, 2022

35757720 (PubMed )
Supplement: DataSheet_1.pdf

Jeffrey's insights: Jeffrey Modell Foundation's global genetic sequencing pilot program to identify specific primary immunodeficiency defects to optimize disease management and treatment.

Quinn J et al.

Immunologic Research, 2020

Subtelomeric methylation distinguishes between subtypes of Immunodeficiency, Centromeric instability and Facial anomalies syndrome.

Toubiana S et al.

Human Molecular Genetics, 2018

Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology.

Velasco G et al.

Orphanet Journal of Rare Diseases, 2014

24742017 (PubMed )
Supplement: 1750-1172-9-56-S2.pdf
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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."