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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Principais autores:	Tao Su, Meng-Long Chen, Li-Hong Liu, Hen Meng, Bin Tang, Xiao-Rong Liu, Wei-Ping Liao
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Frontiers Media S.A. 2022-01-01
Colecção:	Frontiers in Molecular Neuroscience
Assuntos:	missense sodium channel SCN1A epilepsy prediction
Acesso em linha:	https://www.frontiersin.org/articles/10.3389/fnmol.2021.797628/full
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