Associated Papers
Out-of-frame Translation Rescues a Loss-of-function Variant in a Novel TBCE Phenotype.
Sparber P et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Expanding TBCE-related phenotype-novel variant causing rigid spine, eosinophilia, neutropenia, and nocturnal hypoxemia.
Badura-Stronka M et al.
Journal of Applied Genetics, 2025
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.
Sferra A et al.
American Journal of Human Genetics, 2016
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