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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2022
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| Materias: | |
| 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 |