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Showing 1–3 of 3 results

Advanced filters: Author: Sandra Valeina Clear advanced filters

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

De novo and inherited dominant variants in genes encoding U4 and U6 small nuclear RNAs are identified in individuals with retinitis pigmentosa. The variants cluster at nucleotide positions distinct from those implicated in neurodevelopmental disorders.

Mathieu Quinodoz
Kim Rodenburg
Carlo Rivolta
ResearchOpen Access09 Jan 2026
Nature Genetics

Volume: 58, P: 169-179
Retinoblastoma outcomes in Europe: a prospective analysis of 483 patients from 40 countries

Richard Bowman
Mattan Arazi
Richard Bowman
Research17 Dec 2025
Eye

P: 1-9
Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus

Valentina Cipriani
Raquel S. Silva
Anthony T. Moore
ResearchOpen Access08 Aug 2017
Scientific Reports

Volume: 7, P: 1-9