Article

Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.

2024-02-09

Abstract excerpt

<title>Abstract</title> <p>Inherited retinal degenerations are blinding genetic disorders characterized by high genetic and phenotypic heterogeneity. The implementation of next-generation sequencing in routine diagnostics, together with advanced clinical phenotyping including multimodal retinal imaging, have contributed to the increase of reports describing novel genotype-phenotype associations and phenotypic exp...

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Literature Corpus work: 18cac151-03e7-58ab-a68c-599ff951e007
DOI: 10.21203/rs.3.rs-3871956/v1

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