Functional study and pathogenicity classification of PRRT2 missense variants in PRRT2‐related disorders

AIMS: PRRT2 variants are associated with various paroxysmal disorders. To date, more than 90 PRRT2 variants have been reported in PRRT2‐related disorders. Lack of functional study in majority of missense variants makes their pathogenicity uncertain. We aim to evaluate the clinical significance of PR...

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Detalles Bibliográficos
Autores principales: Zhao, Shao‐Yun, Li, Li‐Xi, Chen, Yu‐Lan, Chen, Yi‐Jun, Liu, Gong‐Lu, Dong, Hai‐Lin, Chen, Dian‐Fu, Li, Hong‐Fu, Wu, Zhi‐Ying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6930815/
https://www.ncbi.nlm.nih.gov/pubmed/31124310
http://dx.doi.org/10.1111/cns.13147

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6930815/
https://www.ncbi.nlm.nih.gov/pubmed/31124310
http://dx.doi.org/10.1111/cns.13147

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