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Ultra-rare Disease and Genomics-Driven Precision Medicine

Since next-generation sequencing (NGS) technique was adopted into clinical practices, revolutionary advances in diagnosing rare genetic diseases have been achieved through translating genomic medicine into precision or personalized management. Indeed, several successful cases of molecular diagnosis...

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Detalles Bibliográficos
Autores principales: Lee, Sangmoon, Choi, Murim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korea Genome Organization 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4951399/
https://www.ncbi.nlm.nih.gov/pubmed/27445646
http://dx.doi.org/10.5808/GI.2016.14.2.42