Whole exome sequencing reveals a biallelic frameshift mutation in GRXCR2 in hearing impairment in Cameroon

BACKGROUND: Hearing impairment (HI) genes are poorly studied in African populations. METHODS: We used whole exome sequencing (WES) to investigate pathogenic and likely pathogenic (PLP) variants in 10 individuals with HI, from four multiplex families from Cameroon, two of which were previously unreso...

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Detalles Bibliográficos
Autores principales: Wonkam, Ambroise, Lebeko, Kamogelo, Mowla, Shaheen, Noubiap, Jean Jacques, Chong, Mike, Pare, Guillaume
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8104159/
https://www.ncbi.nlm.nih.gov/pubmed/33528103
http://dx.doi.org/10.1002/mgg3.1609

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