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

Genes - 31 Mar 2020

Toulis Vasileios, Cortés-González Vianney, Castro-Miró Marta de, Sallum Juliana Ferraz, Català-Mora Jaume, Villanueva-Mendoza Cristina, Ciccioli Marcela, Gonzàlez-Duarte Roser, Valero Rebeca, Marfany Gemma

Abstract excerpt

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 variants were prioritized according to in silico predictions. In vivo and in vitro functional tests were used to...

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Identifiers

PMID: 32244552
DOI: 10.3390/genes11040378
PMCID: PMC7231145

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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