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Article

Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes.

Scientific reports - 7 Jan 2022

Rodriguez-Muñoz Ana, Liquori Alessandro, García-Bohorquez Belén, Jaijo Teresa, Aller Elena, Millán José M, García-García Gema

Abstract excerpt

Inherited retinal dystrophies are a group of disorders characterized by the progressive degeneration of photoreceptors leading to loss of the visual function and eventually to legal blindness. Although next generation sequencing (NGS) has revolutionized the molecular diagnosis of these diseases, the pathogenicity of some mutations casts doubts. After the screening of 208 patients with a panel of 117 genes, we...

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Identifiers

PMID: 34996991
DOI: 10.1038/s41598-021-03925-1
PMCID: PMC8742059

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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