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Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes
Ciliopathies are a group of rare disorders characterized by a high genetic and phenotypic variability, which complicates their molecular diagnosis. Hence the need to use the latest powerful approaches to faster identify the genetic defect in these patients. We applied whole exome sequencing to six c...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5553726/ https://www.ncbi.nlm.nih.gov/pubmed/28800606 http://dx.doi.org/10.1371/journal.pone.0183081 |