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Functional Characterization of the MYO6 Variant p.E60Q in Non-Syndromic Hearing Loss Patients

Hereditary hearing loss (HHL) is a common genetic disorder accounting for at least 60% of pre-lingual deafness in children, of which 70% is inherited in an autosomal recessive pattern. The long tradition of consanguinity among the Qatari population has increased the prevalence of HHL, which negative...

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Detalles Bibliográficos
Autores principales: Alkowari, Moza, Espino-Guarch, Meritxell, Daas, Sahar, Abdelrahman, Doua, Hasan, Waseem, Krishnamoorthy, Navaneethakrishnan, Sathappan, Abbirami, Sheehan, Patrick, Van Panhuys, Nicholas, Estivill, Xavier
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8949016/
https://www.ncbi.nlm.nih.gov/pubmed/35328790
http://dx.doi.org/10.3390/ijms23063369