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HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
Am J Hum Genet. 2023 Aug 3;110(8):1414-1435. doi: 10.1016/j.ajhg.2023.07.005.
Am J Hum Genet. 2023.
PMID: 37541189
Free PMC article.
The Impact of X-Chromosome Inactivation on Phenotypic Expression of X-Linked Neurodevelopmental Disorders.
Brand BA, Blesson AE, Smith-Hicks CL.
Brand BA, et al. Among authors: blesson ae.
Brain Sci. 2021 Jul 9;11(7):904. doi: 10.3390/brainsci11070904.
Brain Sci. 2021.
PMID: 34356138
Free PMC article.
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