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A novel missense variant in ESRRB gene causing autosomal recessive non-syndromic hearing loss: in silico analysis of a case

BACKGROUND: Hereditary hearing loss (HHL) is a common heterogeneous disorder affecting all ages, ethnicities, and genders. The most common form of HHL is autosomal recessive non-syndromic hearing loss (ARNSHL), in which there is no genotype–phenotype correlation in the majority of cases. This study...

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Detalles Bibliográficos
Autores principales: Ghasemnejad, Tohid, Shekari Khaniani, Mahmoud, Nouri Nojadeh, Jafar, Mansoori Derakhshan, Sima
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8805370/
https://www.ncbi.nlm.nih.gov/pubmed/35101039
http://dx.doi.org/10.1186/s12920-022-01165-4