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Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss

Kevin T. Booth, Amama Ghaffar, Muhammad Rashid, L Hovey, Mureed Hussain, Kathy Frees, Erika M Renkes, Carla Nishimura, Mohsin Shahzad, Richard J. Smith, Zubair M. Ahmed, Héla Azaiez, Saima Riazuddin

2020Human Genetics23 citationsDOIOpen Access PDF

Topics & Concepts

MinigeneBiologyGeneticsHearing lossExon skippingExonMissense mutationRNA splicingNonsense mutationLoss functionNonsenseGeneHaploinsufficiencyExome sequencingSensorineural hearing lossAlternative splicingMutationRNAPhenotypeMedicineAudiologyHearing, Cochlea, Tinnitus, GeneticsRNA and protein synthesis mechanismsHead and Neck Anomalies
Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss | Litcius