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Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration.
Am J Hum Genet. 2023 Jan 5;110(1):146-160. doi: 10.1016/j.ajhg.2022.12.003.
Am J Hum Genet. 2023.
PMID: 36608681
Free PMC article.
NAA80 bi-allelic missense variants result in high-frequency hearing loss, muscle weakness and developmental delay.
Muffels IJJ, Wiame E, Fuchs SA, Massink MPG, Rehmann H, Musch JLI, Van Haaften G, Vertommen D, van Schaftingen E, van Hasselt PM.
Muffels IJJ, et al.
Brain Commun. 2021 Oct 26;3(4):fcab256. doi: 10.1093/braincomms/fcab256. eCollection 2021.
Brain Commun. 2021.
PMID: 34805998
Free PMC article.
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