Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants

SIMPLE SUMMARY: Hearing loss is the most common sensory impairment in humans. Globally, GJB2 is the most common responsible gene, with missense variants being the most frequent variant type. Pathogenic missense variants in the GJB2 gene cause isolated hearing loss and hearing loss combined with skin...

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Detalles Bibliográficos
Autores principales: Mao, Lu, Wang, Yueqiang, An, Lei, Zeng, Beiping, Wang, Yanyan, Frishman, Dmitrij, Liu, Mengli, Chen, Yanyu, Tang, Wenxue, Xu, Hongen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10135792/
https://www.ncbi.nlm.nih.gov/pubmed/37106706
http://dx.doi.org/10.3390/biology12040505

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10135792/
https://www.ncbi.nlm.nih.gov/pubmed/37106706
http://dx.doi.org/10.3390/biology12040505

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