Varaico: Literature-Extracted Genetic Variants

Gene:ZBTB24
Variant:p.C327delFs
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ZBTB24

NM_014797.3:p.C327delFs

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

Genetic, Cellular and Clinical Features of ICF Syndrome: a French National Survey.

Sterlin D et al.

Journal of Clinical Immunology, 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

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