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New Insights on the Genetic Basis Underlying SHILCA Syndrome: Characterization of the NMNAT1 Pathological Alterations Due to Compound Heterozygous Mutations and Identification of a Novel Alternative Isoform
 
 
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Int. J. Mol. Sci. 2021, 22(5), 2263; https://doi.org/10.3390/ijms22052263
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