Associated Papers
A novel small deletion in CWC27 gene associated with CWC27-related spliceosomeopathy.
Li H et al.
Ophthalmic Genetics, 2024
38956876 (PubMed )
Supplement: supplement_1.pdf
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
37127645 (PubMed )
Supplement: 12920_2023_1518_MOESM2_ESM.xlsx › Sheet1
The Genetic Landscape of Inherited Retinal Diseases in a Mexican Cohort: Genes, Mutations and Phenotypes.
Villanueva-Mendoza C et al.
Genes, 2021
Expanding the clinical and molecular spectrum of the CWC27-related spliceosomopathy.
Brea-Fernández AJ et al.
Journal of Human Genetics, 2019
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.
Xu M et al.
American Journal of Human Genetics, 2017
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