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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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| Pubblicato in: | Mol Genet Genomic Med |
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| Autori principali: | , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
John Wiley and Sons Inc.
2021
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8104159/ https://ncbi.nlm.nih.gov/pubmed/33528103 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1609 |
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