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Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis
Pathogenic missense variants in COCH are associated with DFNA9, an autosomal dominantly inherited type of progressive sensorineural hearing loss with or without vestibular dysfunction. This study is a comprehensive overview of genotype-phenotype correlations using the PRISMA and HuGENet guidelines....
Autores principales: | Robijn, Sybren M. M., Smits, Jeroen J., Sezer, Kadriye, Huygen, Patrick L. M., Beynon, Andy J., van Wijk, Erwin, Kremer, Hannie, de Vrieze, Erik, Lanting, Cornelis P., Pennings, Ronald J. E. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8961530/ https://www.ncbi.nlm.nih.gov/pubmed/35204720 http://dx.doi.org/10.3390/biom12020220 |
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