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Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss

BACKGROUND: MYO15A variants are responsible for human non-syndromic autosomal recessive deafness (DFNB3). The majority of MYO15A variants are associated with a congenital severe-to-profound hearing loss phenotype, except for MYO15A variants in exon 2, which cause a milder auditory phenotype, suggest...

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Detalles Bibliográficos
Autores principales: Zhang, Jing, Guan, Jing, Wang, Hongyang, Yin, Linwei, Wang, Dayong, Zhao, Lidong, Zhou, Huifang, Wang, Qiuju
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451310/
https://www.ncbi.nlm.nih.gov/pubmed/30953472
http://dx.doi.org/10.1186/s12881-019-0790-2