Predicting pathogenicity for novel hearing loss mutations based on genetic and protein structure approaches

Hearing loss is a heterogeneous disorder. Identification of causative mutations is demanding due to genetic heterogeneity. In this study, we investigated the genetic cause of sensorineural hearing loss in patients with severe/profound deafness. After the exclusion of GJB2-GJB6 mutations, we performe...

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Detalles Bibliográficos
Autores principales: Buonfiglio, Paula I., Bruque, Carlos D., Lotersztein, Vanesa, Luce, Leonela, Giliberto, Florencia, Menazzi, Sebastián, Francipane, Liliana, Paoli, Bibiana, Goldschmidt, Ernesto, Elgoyhen, Ana Belén, Dalamón, Viviana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8741999/
https://www.ncbi.nlm.nih.gov/pubmed/34997062
http://dx.doi.org/10.1038/s41598-021-04081-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8741999/
https://www.ncbi.nlm.nih.gov/pubmed/34997062
http://dx.doi.org/10.1038/s41598-021-04081-2

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