Varaico: Literature-Extracted Genetic Variants

Gene:TCF3
Variant:p.S514*
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TCF3

NM_003200.5:p.S514*

Associated Papers

Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency.

Utsumi T et al.

Journal of Clinical Immunology, 2024

TCF3 haploinsufficiency defined by immune, clinical, gene-dosage, and murine studies.

Boast B et al.

The Journal of Allergy and Clinical Immunology, 2023

2020 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.

Unknown Author

Journal of Clinical Immunology, 2020

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