Varaico: Literature-Extracted Genetic Variants

Gene:ZBTB24
Variant:p.K167insFs
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ZBTB24

NM_014797.3:p.K167insFs

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

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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