Cryptic mutations of PLC family members in brain disorders: recent discoveries and a deep-learning-based approach
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DOI: 10.1093/brain/awac451
Abstract: Abstract 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… read more here.
Keywords: mutations plc; brain; deep learning; learning based ... See more keywords