Varaico: Literature-Extracted Genetic Variants

Gene:DNMT3B
Variant:p.T167insFs
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DNMT3B

NM_006892.4:p.T167insFs

Associated Papers

Allogeneic Hematopoietic Stem Cell Transplantation in Immunodeficiency-Centromeric Instability-Facial Dysmorphism (ICF) Syndrome: an EBMT/ESID Inborn Errors Working Party Study.

Berghuis D et al.

Journal of Clinical Immunology, 2024

Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.

Weemaes CM et al.

European Journal of Human Genetics : Ejhg, 2013

Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients.

Nitta H et al.

Journal of Human Genetics, 2013

Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.

de Greef JC et al.

American Journal of Human Genetics, 2011

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."