Diagnostic utility of whole-genome sequencing for nephronophthisis

Next-generation sequencing has revolutionized the molecular diagnosis of individuals affected by genetic kidney diseases. Indeed, rapid genetic testing in individuals with suspected inherited nephropathy has not only important implications for diagnosis and prognosis but also for genetic counseling....

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Detalles Bibliográficos
Autores principales: Larrue, Romain, Chamley, Paul, Bardyn, Thomas, Lionet, Arnaud, Gnemmi, Viviane, Cauffiez, Christelle, Glowacki, François, Pottier, Nicolas, Broly, Franck
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7506526/
https://www.ncbi.nlm.nih.gov/pubmed/33024573
http://dx.doi.org/10.1038/s41525-020-00147-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7506526/
https://www.ncbi.nlm.nih.gov/pubmed/33024573
http://dx.doi.org/10.1038/s41525-020-00147-8

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