Cell-based analysis of CLIC5A and SLC12A2 variants associated with hearing impairment in two African families

We have previously reported CLIC5A and SLC12A2 variants in two families from Cameroon and Ghana, segregating non-syndromic hearing impairment (NSHI). In this study, biological assays were performed to further functionally investigate the pathogenicity of CLIC5 [c.224T>C; p.(L75P)] and SCL12A2 [c....

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Detalles Bibliográficos
Autores principales: Adadey, Samuel Mawuli, Wonkam-Tingang, Edmond, Alves de Souza Rios, Leonardo, Aboagye, Elvis Twumasi, Esoh, Kevin, Manyisa, Noluthando, De Kock, Carmen, Awandare, Gordon A., Mowla, Shaheen, Wonkam, Ambroise
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9403182/
https://www.ncbi.nlm.nih.gov/pubmed/36035115
http://dx.doi.org/10.3389/fgene.2022.924904

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9403182/
https://www.ncbi.nlm.nih.gov/pubmed/36035115
http://dx.doi.org/10.3389/fgene.2022.924904

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