Genotype-Phenotype Correlations of Pathogenic <i>COCH</i> Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis
Pathogenic missense variants in <i>COCH</i> 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 guide...
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| Автори: | , , , , , , , , , |
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| Формат: | Artigo |
| Мова: | Inglês |
| Опубліковано: |
MDPI AG
2022-01-01
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| Серія: | Biomolecules |
| Предмети: | |
| Онлайн доступ: | https://www.mdpi.com/2218-273X/12/2/220 |
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