Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein.

Paras A PatelLeslie E W LaConteChen LiangThomas CecereDeepa RajanSarika SrivastavaKonark Mukherjee

Published in: Journal of medical genetics (2024)

Loss of CASK function disproportionately affects the cerebellum. Clinical data, however, suggest that CASK may have additional vertebrate-specific function/s that play a role in the mammalian forebrain. Thus, CASK has an ancient function shared between invertebrates and vertebrates as well as novel vertebrate-specific function/s.

Keyphrases

gene expression
machine learning
electronic health record
genome wide
big data
artificial intelligence