Varaico: Literature-Extracted Genetic Variants

Gene:ZBTB24
Variant:p.C383S
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ZBTB24

NM_014797.3:p.C383S

Associated Papers

In-depth immune profiling of a patient with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2 caused by a novel mutation in ZBTB24.

Roark CM et al.

Clinical and Experimental Immunology, 2025

T Cell Repertoire Abnormality in Immunodeficiency Patients with DNA Repair and Methylation Defects.

Fang M et al.

Journal of Clinical Immunology, 2022

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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."