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Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
Sci Adv. 2023 Mar 10;9(10):eade1463. doi: 10.1126/sciadv.ade1463. Epub 2023 Mar 10.
Sci Adv. 2023.
PMID: 36897941
Free PMC article.
Heterozygous variants in TBCK cause a mild neurologic syndrome in humans and mice.
Nair D, Diaz-Rosado A, Varella-Branco E, Ramos I, Black A, Angireddy R, Park J, Murali S, Yoon A, Ciesielski B, O'Brien WT, Passos-Bueno MR, Bhoj E.
Nair D, et al. Among authors: diaz rosado a.
Am J Med Genet A. 2023 Oct;191(10):2508-2517. doi: 10.1002/ajmg.a.63320. Epub 2023 Jun 23.
Am J Med Genet A. 2023.
PMID: 37353954
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