Varaico: Literature-Extracted Genetic Variants

Gene:DNMT3B
Variant:p.A585T
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DNMT3B

NM_006892.4:p.A585T

Associated Papers

Immunodeficiency, Centromeric Region Instability, and Facial Anomalies Syndrome (ICF) in a Boy with Variable Clinical and Immunological Presentations.

Bemanian MH et al.

Iranian Journal of Allergy, Asthma, and Immunology, 2021

A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF).

Rechavi E et al.

Journal of Clinical Immunology, 2016

G23D: Online tool for mapping and visualization of genomic variants on 3D protein structures.

Solomon O et al.

Bmc Genomics, 2016

CanDrA: cancer-specific driver missense mutation annotation with optimized features.

Mao Y et al.

Plos One, 2013

24205039 (PubMed )
Supplement: pone.0077945.s001.xls › Table_S4

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."