Correlation Analyses of Clinical Manifestations and Variant Effects in KCNB1-Related Neurodevelopmental Disorder

Objective: Vitro functional analyses of KCNB1 variants have been done to disclose possible pathogenic mechanisms in KCNB1-related neurodevelopmental disorder. “Complete or partial loss of function (LoF),” “dominant-negative (DN) effect” are applied to describe KCNB1 variant's molecular phenotyp...

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Detalles Bibliográficos
Autores principales: Xiong, Juan, Liu, Zhonghua, Chen, Shimeng, Kessi, Miriam, Chen, Baiyu, Duan, Haolin, Deng, Xiaolu, Yang, Lifen, Peng, Jing, Yin, Fei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8767024/
https://www.ncbi.nlm.nih.gov/pubmed/35071126
http://dx.doi.org/10.3389/fped.2021.755344

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8767024/
https://www.ncbi.nlm.nih.gov/pubmed/35071126
http://dx.doi.org/10.3389/fped.2021.755344

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