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Whole exome sequencing reveals pathogenic variants in MYO3A, MYO15A and COL9A3 and differential frequencies in ancestral alleles in hearing impairment genes among individuals from Cameroon

There is scarcity of known gene variants of hearing impairment (HI) in African populations. This knowledge deficit is ultimately affecting the development of genetic diagnoses. We used whole exome sequencing to investigate gene variants, pathways of interactive genes and the fractions of ancestral o...

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Dades bibliogràfiques
Publicat a:Hum Mol Genet
Autors principals: Wonkam, Ambroise, Manyisa, Noluthando, Bope, Christian D, Dandara, Collet, Chimusa, Emile R
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2020
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7861016/
https://ncbi.nlm.nih.gov/pubmed/33078831
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddaa225
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