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Journal: Int. J. Mol. Sci., 2022
Volume: 23
Number: 12367
12367
Article: Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 Deficiency
Authors: by Gerard Muñoz-Pujol, Socorro Alforja-Castiella, Ricardo Casaroli-Marano, Blai Morales-Romero, Judit García-Villoria, Vicente A. Yépez, Julien Gagneur, Mirjana Gusic, Holger Prokisch, Frederic Tort and Antonia Ribes
Link: https://www.mdpi.com/1422-0067/23/20/12367

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