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Design and Validation of a Custom NGS Panel Targeting a Set of Lysosomal Storage Diseases Candidate for NBS Applications

Lysosomal storage diseases (LSDs) are a heterogeneous group of approximately 70 monogenic metabolic disorders whose diagnosis represents an arduous challenge for clinicians due to their variability in phenotype penetrance, clinical manifestations, and high allelic heterogeneity. In recent years, the...

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Detalles Bibliográficos
Autores principales:	La Cognata, Valentina, Guarnaccia, Maria, Morello, Giovanna, Ruggieri, Martino, Polizzi, Agata, Cavallaro, Sebastiano
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8470217/ https://www.ncbi.nlm.nih.gov/pubmed/34576242 http://dx.doi.org/10.3390/ijms221810064

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