Frontiers in Genetics· 2019Q2
Targeted Next Generation Sequencing Revealed a Novel Homozygous Loss-of-Function Mutation in ILDR1 Gene Causes Autosomal Recessive Nonsyndromic Sensorineural Hearing Loss in a Chinese Family
- 432citations
- Q2SCImago
- 2019year
Short summary
A novel homozygous loss-of-function mutation (c.427delT) in the ILDR1 gene was identified in a Chinese family with autosomal recessive nonsyndromic sensorineural hearing loss (NSHL), causing a truncated protein.
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