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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...
Autores principales: | Alkowari, Moza, Espino-Guarch, Meritxell, Daas, Sahar, Abdelrahman, Doua, Hasan, Waseem, Krishnamoorthy, Navaneethakrishnan, Sathappan, Abbirami, Sheehan, Patrick, Van Panhuys, Nicholas, Estivill, Xavier |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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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 |
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