Varaico: Literature-Extracted Genetic Variants

Gene:ZBTB24
Variant:p.N306delFs
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ZBTB24

NM_014797.3:p.N306delFs

Associated Papers

Case report: Novel multi-exon homozygous deletion of ZBTB24 causes immunodeficiency, centromeric instability, and facial anomalies syndrome 2.

Long Y et al.

Frontiers in Immunology, 2025

39958354 (PubMed )
Supplement: DataSheet2.pdf

Expanding the mutation spectrum in ICF syndrome: Evidence for a gender bias in ICF2.

van den Boogaard ML et al.

Clinical Genetics, 2017

Converging disease genes in ICF syndrome: ZBTB24 controls expression of CDCA7 in mammals.

Wu H et al.

Human Molecular Genetics, 2016

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

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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."