Genotypes truncating the intracellular tail of human pre-TCRα: From amorphic to isomorphic.

ABSTRACT: We identified six individuals with homozygous truncating variants in the pre-TCRα intracellular tail, revealing hypomorphic and neutral alleles. Functional assays show the tail is largely dispensable for pre-TCR expression and highlight the need for experimental validation of such variants.

SUBMITTER: Materna M 

PROVIDER: S-EPMC12842982 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature