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Differential Domain Distribution of gnomAD- and Disease-Linked Connexin Missense Variants

Twenty-one human genes encode connexins, a family of homologous proteins making gap junction (GJ) channels, which mediate direct intercellular communication to synchronize tissue/organ activities. Genetic variants in more than half of the connexin genes are associated with dozens of different Mendel...

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Detalles Bibliográficos
Autores principales: Bai, Donglin, Wang, Jiayi, Li, Tianhe, Chan, Ryan, Atalla, Mena, Chen, Robert C., Khazaneh, Mohammad T., An, Raphael J., Stathopulos, Peter B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8346055/
https://www.ncbi.nlm.nih.gov/pubmed/34360596
http://dx.doi.org/10.3390/ijms22157832