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Journal: Genes, 2023
Volume: 14
Number: 1990

Article: Challenges in the Definitive Diagnosis of Niemann–Pick Type C—Leaky Variants and Alternative Transcripts
Authors: by Marisa Encarnação, Isaura Ribeiro, Hugo David, Maria Francisca Coutinho, Dulce Quelhas and Sandra Alves
Link: https://www.mdpi.com/2073-4425/14/11/1990

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