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Recurrent de novo WFS1 pathogenic variants in Chinese sporadic patients with nonsyndromic sensorineural hearing loss

BACKGROUND: Hereditary hearing loss (HL) is heterogeneous in terms of their phenotypic features, modes of inheritance, and causative gene mutations. The contribution of genetic variants to sporadic HL remains largely expanding. Either recessive or de novo dominant variants could result in an apparen...

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Библиографические подробности
Опубликовано в: :Mol Genet Genomic Med
Главные авторы: Guan, Jing, Wang, Hongyang, Lan, Lan, Wu, Yusen, Chen, Guohui, Zhao, Cui, Wang, Dayong, Wang, Qiuju
Формат: Artigo
Язык:Inglês
Опубликовано: John Wiley and Sons Inc. 2020
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC7434732/
https://ncbi.nlm.nih.gov/pubmed/32567228
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1367
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