NGS analysis in Marfan syndrome spectrum: Combination of rare and common genetic variants to improve genotype-phenotype correlation analysis

The diagnosis of Marfan spectrum includes a large number of clinical criteria. Although the identification of pathogenic variants contributes to the diagnostic process, its value to the prediction of clinical outcomes is still limited. An important novelty of the present study is represented by the...

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Detalles Bibliográficos
Autores principales: Gentilini, Davide, Oliveri, Antonino, Fazia, Teresa, Pini, Alessandro, Marelli, Susan, Bernardinelli, Luisa, Di Blasio, Anna Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752800/
https://www.ncbi.nlm.nih.gov/pubmed/31536524
http://dx.doi.org/10.1371/journal.pone.0222506

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752800/
https://www.ncbi.nlm.nih.gov/pubmed/31536524
http://dx.doi.org/10.1371/journal.pone.0222506

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