Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants

Aims: We aimed to validate the pathogenicity of genetic variants identified in inherited retinal dystrophy (IRD) patients, which were located in non-canonical splice sites (NCSS). Methods: After next generation sequencing (NGS) analysis (target gene panels or whole exome sequencing (WES)), NCSS vari...

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Detalles Bibliográficos
Autores principales: Toulis, Vasileios, Cortés-González, Vianney, de Castro-Miró, Marta, Ferraz Sallum, Juliana, Català-Mora, Jaume, Villanueva-Mendoza, Cristina, Ciccioli, Marcela, Gonzàlez-Duarte, Roser, Valero, Rebeca, Marfany, Gemma
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7231145/
https://www.ncbi.nlm.nih.gov/pubmed/32244552
http://dx.doi.org/10.3390/genes11040378

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7231145/
https://www.ncbi.nlm.nih.gov/pubmed/32244552
http://dx.doi.org/10.3390/genes11040378

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