Varaico: Literature-Extracted Genetic Variants

Gene:ZBTB24
Variant:p.H132_S133delFs
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ZBTB24

NM_014797.3:p.H132_S133delFs

Associated Papers

ZBTB24 is a conserved multifaceted transcription factor at genes and centromeres that governs the DNA methylation state and expression of satellite repeats.

Grillo G et al.

Human Molecular Genetics, 2025

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

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

Nitta H et al.

Journal of Human Genetics, 2013

A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.

Chouery E et al.

Clinical Genetics, 2012

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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."