Associated Papers
A novel missense TUBB4B variant outside of the canonical hotspot is associated with cone-rod dystrophy and sensorineural hearing loss.
Cao LY et al.
Ophthalmic Genetics, 2025
Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia.
Black HA et al.
Pediatric Pulmonology, 2024
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Dodd DO et al.
Science (new York, N.y.), 2024
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