CWC27

Publications

Brea-Fernández AJ et al. Expanding the clinical and molecular spectrum of the CWC27-related spliceosomopathy. J Hum Genet. 2019;64:1133-1136. PMID: 31481716.

Xu M et al. Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. Am J Hum Genet. 2017;100(4):592-604. PMID: 28285769.