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publicationName Journal of pediatric endocrinology & metabolism : JPEM
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bibliographicCitation Coutinho MF, Encarnação M, Laranjeira F, Lacerda L, Prata MJ, Alves S. Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/beta. J Pediatr Endocrinol Metab. 2016 Oct 01;29(10):1225–8. doi: 10.1515/jpem-2016-0173. PMID: 27710913.
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title Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/beta
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