Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration.
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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
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