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Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases

BACKGROUND: The clinical diagnosis of genetic renal diseases may be limited by the overlapping spectrum of manifestations between diseases or by the advancement of disease where clues to the original process are absent. The objective of this study was to determine whether genetic testing informs dia...

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Detalles Bibliográficos
Autores principales: Mansilla, M Adela, Sompallae, Ramakrishna R, Nishimura, Carla J, Kwitek, Anne E, Kimble, Mycah J, Freese, Margaret E, Campbell, Colleen A, Smith, Richard J, Thomas, Christie P
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7834596/
https://www.ncbi.nlm.nih.gov/pubmed/31738409
http://dx.doi.org/10.1093/ndt/gfz173