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Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment
Congenital hearing impairment (HI) is genetically heterogeneous making its genetic diagnosis challenging. Investigation of novel HI genes and variants will enhance our understanding of the molecular mechanisms and to aid genetic diagnosis. We performed exome sequencing and analysis using DNA samples...
Autores principales: | Adadey, Samuel M., Schrauwen, Isabelle, Aboagye, Elvis Twumasi, Bharadwaj, Thashi, Esoh, Kevin K., Basit, Sulman, Acharya, Anushree, Nouel-Saied, Liz M., Liaqat, Khurram, Wonkam-Tingang, Edmond, Mowla, Shaheen, Awandare, Gordon A., Ahmad, Wasim, Leal, Suzanne M., Wonkam, Ambroise |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Singapore
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8612923/ https://www.ncbi.nlm.nih.gov/pubmed/34226616 http://dx.doi.org/10.1038/s10038-021-00954-6 |
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