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
A Novel Variant in TUBB4B Causes Progressive Cone-Rod Dystrophy and Early Onset Sensorineural Hearing Loss.
Scarpato M et al.
Molecular Genetics & Genomic Medicine, 2025
Mutation of beta-tubulin 4B gene (TUBB4B) causes autosomal dominant retinitis pigmentosa with sensorineural hearing loss in a multigenerational family.
Gregory-Evans CY et al.
Molecular Vision, 2025
Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes.
Bodenbender JP et al.
Scientific Reports, 2024
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