Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes

Hearing loss (HL) is a common sensory deficit in humans and represents an important clinical and social burden. We studied whole-genome sequencing data of a cohort of 2,097 individuals from the Brazilian Rare Genomes Project who were unaffected by hearing loss to investigate pathogenic and likely pa...

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Detalles Bibliográficos
Autores principales: Quaio, Caio Robledo D’ Angioli Costa, Coelho, Antonio Victor Campos, Moura, Livia Maria Silva, Guedes, Rafael Lucas Muniz, Chen, Kelin, Ceroni, Jose Ricardo Magliocco, Minillo, Renata Moldenhauer, Caraciolo, Marcel Pinheiro, Reis, Rodrigo de Souza, de Azevedo, Bruna Mascaro Cordeiro, Nobrega, Maria Soares, Teixeira, Anne Caroline Barbosa, Martinelli Lima, Matheus, da Mota, Thamara Rayssa, da Matta, Marina Cadena, Colichio, Gabriela Borges Cherulli, Roncalho, Aline Lulho, Ferreira, Ana Flavia Martinho, Campilongo, Gabriela Pereira, Perrone, Eduardo, Virmond, Luiza do Amaral, Moreno, Carolina Araujo, Prota, Joana Rosa Marques, de França, Marina, Cervato, Murilo Castro, de Almeida, Tatiana Ferreira, de Oliveira Filho, Joao Bosco
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/PMC9486813/
https://www.ncbi.nlm.nih.gov/pubmed/36147510
http://dx.doi.org/10.3389/fgene.2022.921324

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9486813/
https://www.ncbi.nlm.nih.gov/pubmed/36147510
http://dx.doi.org/10.3389/fgene.2022.921324

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