A translational pipeline for classification of variants of uncertain significance to support gene therapy clinical trial in OTOF-related deafness
New methods help identify genetic changes in deafness-causing genes, moving toward clearer answers for families seeking diagnosis.
OTOF gene dysfunction causes congenital deafness. This study is registered with the Chinese Clinical Trial Registry: ChiCTR2200063181.
What the study was
- Study design
- Observational/Cohort Study
- Population
- patients with biallelic OTOF variants in our cohort
- Sample size
- 38
- Category
- Drug Development
- Maturity
- Validated
- Journal
- Cell reports. Medicine
Why it surfaced
moderate relevance to watchlist
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