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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Publicat a:Genes (Basel)
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: MDPI 2020
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7231145/
https://ncbi.nlm.nih.gov/pubmed/32244552
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11040378
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