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Updated: Jan 30, 2026

A Murine Tail Lymphedema Model
Published on: February 10, 2021
Genotypes truncating the intracellular tail of human pre-TCRα: From amorphic to isomorphic
Marie Materna1,2, Christian Beetz3, Christian A Ganoza3
1Laboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
None:
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.
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