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Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome.
Int J Mol Sci. 2021 Dec 15;22(24):13484. doi: 10.3390/ijms222413484.
Int J Mol Sci. 2021.
PMID: 34948281
Free PMC article.
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?
Lopergolo D, Privitera F, Castello G, Lo Rizzo C, Mencarelli MA, Pinto AM, Ariani F, Currò A, Lamacchia V, Canitano R, Vaghi E, Ferrarini A, Baltodano GM, Lederer D, Van Maldergem L, Serrano M, Pineda M, Fons-Estupina MDC, Van Esch H, Breckpot J, Kumps C, Callewaert B, Mueller S, Ramelli GP, Armstrong J, Renieri A, Mari F.
Lopergolo D, et al. Among authors: fons estupina mdc.
Clin Genet. 2021 Mar;99(3):462-474. doi: 10.1111/cge.13908. Epub 2021 Jan 9.
Clin Genet. 2021.
PMID: 33368194
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