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Journal: Int. J. Mol. Sci., 2021
Volume: 22
Number: 2262

Article: 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
Authors: by Víctor Abad-Morales, Ana Wert, María Ángeles Ruiz Gómez, Rafael Navarro and Esther Pomares
Link: https://www.mdpi.com/1422-0067/22/5/2262

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