Varaico: Literature-Extracted Genetic Variants

Gene:PTCRA
Variant:p.C14*
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PTCRA

NM_138296.3:p.C14*

Associated Papers

T-Cell Receptor Excision Circle/Kappa-Deleting Recombination Excision Circle-Based Newborn Screening Program for Severe Combined Immunodeficiency in Kumamoto, Japan.

Kinoshita Y et al.

Cell Biochemistry and Biophysics, 2025

The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants.

Materna M et al.

Science (new York, N.y.), 2024

38422122 (PubMed )
Supplement: NIHMS1972302-supplement-Data_Table.xlsx › CLINICAL_SUMMARY
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