De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.
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Am J Hum Genet. 2024 Apr 4;111(4):742-760. doi: 10.1016/j.ajhg.2024.02.007. Epub 2024 Mar 12.
Am J Hum Genet. 2024.
PMID: 38479391
Free PMC article.