Clinical and whole exome sequencing findings in children from Yunnan Yi minority ethnic group with retinitis pigmentosa: two case reports
Article in Journal of Medical Case Reports (June 2023)
The most recent citing publications are shown below. View all 11 publications that cite this research output on Dimensions.
A high throughput splicing assay to investigate the effect of variants of unknown significance on exon inclusion
Preprint in medRxiv (December 2022)
Molecular background of Leber congenital amaurosis in a Polish cohort of patients—novel variants discovered by NGS
Article in Journal of Applied Genetics (November 2022)