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A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in Ghana

BACKGROUND: Childhood hearing impairment (HI) is genetically heterogeneous with many implicated genes, however, only a few of these genes are reported in African populations. METHODS: This study used exome and Sanger sequencing to resolve the possible genetic cause of non-syndromic HI in a Ghanaian...

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Detalles Bibliográficos
Autores principales: Adadey, Samuel Mawuli, Aboagye, Elvis Twumasi, Esoh, Kevin, Acharya, Anushree, Bharadwaj, Thashi, Lin, Nicole S., Amenga-Etego, Lucas, Awandare, Gordon A., Schrauwen, Isabelle, Leal, Suzanne M., Wonkam, Ambroise
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9648021/
https://www.ncbi.nlm.nih.gov/pubmed/36357908
http://dx.doi.org/10.1186/s12920-022-01391-w