Validation of a targeted gene panel sequencing for the diagnosis of hereditary chronic liver diseases

Background: The cause of chronic liver diseases (CLD) remains undiagnosed in up to 30% of adult patients. Whole-Exome Sequencing (WES) can improve the diagnostic rate of genetic conditions, but it is not yet widely available, due to the costs and the difficulties in results interpretation. Targeted...

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Detalles Bibliográficos
Autores principales: Ronzoni, Luisa, Marini, Ilaria, Passignani, Giulia, Malvestiti, Francesco, Marchelli, Daniele, Bianco, Cristiana, Pelusi, Serena, Prati, Daniele, Valenti, Luca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10300275/
https://www.ncbi.nlm.nih.gov/pubmed/37388930
http://dx.doi.org/10.3389/fgene.2023.1137016

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10300275/
https://www.ncbi.nlm.nih.gov/pubmed/37388930
http://dx.doi.org/10.3389/fgene.2023.1137016

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