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Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.
Nat Commun. 2023 Jul 11;14(1):4109. doi: 10.1038/s41467-023-39645-5.
Nat Commun. 2023.
PMID: 37433783
Free PMC article.
High density SNP array and reanalysis of genome sequencing uncovers CNVs associated with neurodevelopmental disorders in KOLF2.1J iPSCs.
Gracia-Diaz C, Perdomo JE, Khan ME, Disanza B, Cajka GG, Lei S, Gagne A, Maguire JA, Roule T, Shalem O, Bhoj EJ, Ahrens-Nicklas RC, French D, Goldberg EM, Wang K, Glessner J, Akizu N.
Gracia-Diaz C, et al.
bioRxiv [Preprint]. 2023 Jun 26:2023.06.26.546614. doi: 10.1101/2023.06.26.546614.
bioRxiv. 2023.
PMID: 37425875
Free PMC article.
Updated.
Preprint.
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