Critical Role of E1623 Residue in S3-S4 Loop of Nav1.1 Channel and Correlation Between Nature of Substitution and Functional Alteration

Objective: An overwhelming majority of the genetic variants associated with genetic disorders are missense. The association between the nature of substitution and the functional alteration, which is critical in determining the pathogenicity of variants, remains largely unknown. With a novel missense...

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Detalles Bibliográficos
Autores principales: Su, Tao, Chen, Meng-Long, Liu, Li-Hong, Meng, Hen, Tang, Bin, Liu, Xiao-Rong, Liao, Wei-Ping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Molecular Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8785683/
https://www.ncbi.nlm.nih.gov/pubmed/35082603
http://dx.doi.org/10.3389/fnmol.2021.797628

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8785683/
https://www.ncbi.nlm.nih.gov/pubmed/35082603
http://dx.doi.org/10.3389/fnmol.2021.797628

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