Varaico: Literature-Extracted Genetic Variants

Gene:ZBTB24
Variant:p.H480insFs
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ZBTB24

NM_014797.3:p.H480insFs

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
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