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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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2019
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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 |