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Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D-Related Disorder.
Int J Mol Sci. 2023 Jan 18;24(3):1874. doi: 10.3390/ijms24031874.
Int J Mol Sci. 2023.
PMID: 36768210
Free PMC article.
Review.
The Expanding Phenotypical Spectrum of WARS2-Related Disorder: Four Novel Cases with a Common Recurrent Variant.
Pauly MG, Korenke GC, Diaw SH, Grözinger A, Cazurro-Gutiérrez A, Pérez-Dueñas B, González V, Macaya A, Serrano Antón AT, Peterlin B, Božović IB, Maver A, Münchau A, Lohmann K.
Pauly MG, et al. Among authors: grozinger a.
Genes (Basel). 2023 Mar 29;14(4):822. doi: 10.3390/genes14040822.
Genes (Basel). 2023.
PMID: 37107582
Free PMC article.
Review.
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