Varaico: Literature-Extracted Genetic Variants

Gene:DNMT3B
Variant:p.T775I
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DNMT3B

NM_006892.4:p.T775I

Associated Papers

Autoimmune hepatitis in genetic syndromes: A literature review.

Capra AP et al.

World Journal of Hepatology, 2021

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

Toubiana S et al.

Human Molecular Genetics, 2018

ICF-specific DNMT3B dysfunction interferes with intragenic regulation of mRNA transcription and alternative splicing.

Gatto S et al.

Nucleic Acids Research, 2017

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."