Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders

Málaga, Diana Rojas ; Brusius-Facchin, Ana Carolina ; Siebert, Marina ; Pasqualim, Gabriela ; Saraiva-Pereira, Maria Luiza ; Souza, Carolina F M de ; Schwartz, Ida V D ; Matte, Ursula ; Giugliani, Roberto

Genetics and molecular biology, 2019-01, Vol.42 (1 suppl 1), p.197-206 [Periódico revisado por pares]

Brazil: Sociedade Brasileira de Genetica

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