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Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Am J Hum Genet. 2022 Apr 7;109(4):601-617. doi: 10.1016/j.ajhg.2022.03.002.
Am J Hum Genet. 2022.
PMID: 35395208
Free PMC article.
A family study implicates GBE1 in the etiology of autism spectrum disorder.
Fanjul-Fernández M, Brown NJ, Hickey P, Diakumis P, Rafehi H, Bozaoglu K, Green CC, Rattray A, Young S, Alhuzaimi D, Mountford HS, Gillies G, Lukic V, Vick T, Finlay K, Coe BP, Eichler EE, Delatycki MB, Wilson SJ, Bahlo M, Scheffer IE, Lockhart PJ.
Fanjul-Fernández M, et al.
Hum Mutat. 2022 Jan;43(1):16-29. doi: 10.1002/humu.24289. Epub 2021 Oct 21.
Hum Mutat. 2022.
PMID: 34633740
Free PMC article.
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