Molecular Characterization of a Novel Mucopolysaccharidosis (MPS) type VI-causing Mutation – Indirect Proof of Principle on its Pathogenicity
Introduction: With its unprecedented throughput, scalability and speed, next-generation sequencing (NGS) is revolutionizing clinical research. Targeted sequencing in particular is now available in many labs. Still, whenever a novel variant is detected, its pathogenicity must be carefully assessed an...
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| Outros Autores: | , , |
| Formato: | conferenceObject |
| Idioma: | eng |
| Publicado em: |
2019
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| Assuntos: | |
| Texto completo: | http://hdl.handle.net/10400.18/6289 |
| País: | Portugal |
| Oai: | oai:repositorio.insa.pt:10400.18/6289 |