Cryptic mutations of PLC family members in brain disorders: recent discoveries and a deep-learning-based approach

Phospholipase C (PLC) is an essential isozyme involved in the phosphoinositide signalling pathway, which maintains cellular homeostasis. Gain- and loss-of-function mutations in PLC affect enzymatic activity and are therefore associated with several disorders. Alternative splicing variants of PLC can...

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Detalles Bibliográficos
Autores principales: Lim, Key-Hwan, Yang, Sumin, Kim, Sung-Hyun, Ko, Euiseong, Kang, Mingon, Joo, Jae-Yeol
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Review Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10115239/
https://www.ncbi.nlm.nih.gov/pubmed/36448305
http://dx.doi.org/10.1093/brain/awac451

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10115239/
https://www.ncbi.nlm.nih.gov/pubmed/36448305
http://dx.doi.org/10.1093/brain/awac451

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