Varaico: Literature-Extracted Genetic Variants

Gene:DIP2B
Variant:p.K47ins8
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DIP2B

NM_173602.3:p.K47ins8

Associated Papers

Pre-T cell receptor-α immunodeficiency detected exclusively using whole genome sequencing.

Merico D et al.

Npj Genomic Medicine, 2025

39805825 (PubMed )
Supplement: 41525_2024_453_MOESM2_ESM.xlsx › RecessiveHom_Rare05

Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency.

Pasternak Y et al.

The Journal of Allergy and Clinical Immunology. Global, 2024

38800615 (PubMed )
Supplement: mmc2.xlsx › P1-dominant
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