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TITLE: Challenges in the Definitive Diagnosis of Niemann–Pick Type C—Leaky Variants and Alternative Transcripts
AUTHORS: Marisa Encarnação; Isaura Ribeiro ; Hugo David; Maria Francisca Coutinho; Dulce Quelhas ; Sandra Alves;
PUBLISHED: 2023, SOURCE: Genes, VOLUME: 14, ISSUE: 11
INDEXED IN: CrossRef
IN MY: ORCID