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The Expanding Phenotypical Spectrum of WARS2-Related Disorder: Four Novel Cases with a Common Recurrent Variant.
Genes (Basel). 2023 Mar 29;14(4):822. doi: 10.3390/genes14040822.
Genes (Basel). 2023.
PMID: 37107582
Free PMC article.
Review.
Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D-Related Disorder.
Pauly MG, Brüggemann N, Efthymiou S, Grözinger A, Diaw SH, Chelban V, Turchetti V, Vona B, Tadic V, Houlden H, Münchau A, Lohmann K.
Pauly MG, et al. Among authors: grozinger a.
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.
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