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Diagnosis of 4 novel cases of adult acid sphyngomielynase deficiency by screening with next-generation sequencing gene panels
Diagnosis of 4 novel cases of adult acid sphyngomielynase deficiency by screening with next-generation sequencing gene panels
2020
Jesús Villarrubia
Gloria Muñoz
Marta Gandía
Crina Ciubotariu
Miguel Piris-Villaespesa
Mar Meijón
J. López Jiménez
Joaquín Carrillo Farga
Francisco J. del Castillo
Keywords:
Genetics
DNA sequencing
Biology
Gene
gene panel
Correction
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