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Targeted Next-Generation Sequencing Identified Novel Compound Heterozygous Variants in the PTPRQ Gene Causing Autosomal Recessive Hearing Loss in a Chinese Family

Hearing loss is among the most common congenital sensory impairments. Genetic causes account for more than 50% of the cases of congenital hearing loss. The PTPRQ gene, encoding protein tyrosine phosphatase receptor Q, plays an important role in maintaining the stereocilia structure and function of h...

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Detalles Bibliográficos
Autores principales:	Jin, Yuan, Liu, Xiao-Zhou, Xie, Le, Xie, Wen, Chen, Sen, Sun, Yu
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/PMC9310072/ https://www.ncbi.nlm.nih.gov/pubmed/35899188 http://dx.doi.org/10.3389/fgene.2022.884522

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