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Cell|September 27, 2014
A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseasesShinya Yamamoto, Manish Jaiswal, Wu-Lin Charng, et al.
Human Mutation|March 25, 2022
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsiaMaria Solaki, Britta Baumann, Peggy Reuter, et al.
NPJ Genomic Medicine|April 17, 2025
Variants in CFAP410 cause a range of retinal and skeletal phenotypesRyan E Schmidt, Amy E Pohodich, David Birch, et al.
Medrxiv : the Preprint Server for Health Sciences|January 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosaMathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, et al.
Nature Genetics|January 9, 2026
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosaMathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, et al.
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