Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy.
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Buchert R, et al.
Am J Hum Genet. 2025 Feb 6;112(2):374-393. doi: 10.1016/j.ajhg.2024.12.019. Epub 2025 Jan 16.
Am J Hum Genet. 2025.
PMID: 39824192
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