Varaico: Literature-Extracted Genetic Variants

Gene:DNMT3B
Variant:p.G583S
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DNMT3B

NM_006892.4:p.G583S

Associated Papers

Genetic, Cellular and Clinical Features of ICF Syndrome: a French National Survey.

Sterlin D et al.

Journal of Clinical Immunology, 2016

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

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

Hu H et al.

Autoimmunity, 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."