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A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing

Yoel Hirsch, Chayada Tangshewinsirikul, Kevin T. Booth, Héla Azaiez, Devorah Yefet, Adina Quint, Tzvi Weiden, Zippora Brownstein, Michal Macarov, Bella Davidov, John Pappas, Rachel Rabin, Margaret A. Kenna, Andrea M. Oza, Katherine A Lafferty, Sami S. Amr, Heidi L. Rehm, Diana L. Kolbe, Kathy Frees, Carla Nishimura, Minjie Luo, Chantal Farra, Cynthia C. Morton, Sholem Y. Scher, Josef Ekstein, Karen B. Avraham, Richard J. Smith, Jun Shen

2021European Journal of Human Genetics16 citationsDOIOpen Access PDF

Topics & Concepts

GeneticsBiologyHearing lossCompound heterozygosityLoss of heterozygositySensorineural hearing lossPopulationMutationGeneAlleleMedicineAudiologyEnvironmental healthHearing, Cochlea, Tinnitus, GeneticsRNA regulation and diseaseRNA and protein synthesis mechanisms
A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing | Litcius