Skip to content

Author

Xiaolu Wang

1 paper indexed here

We haven’t gathered this author’s papers yet. Follow them and we’ll fetch their work.

Not the right person? Other researchers publish under this name.

Open access Jul 2026

Breakpoint-level characterization of a novel CEP290 tandem duplication in trans with a pathogenic splice-site variant in a patient with Leber congenital amaurosis.

This study represents the first breakpoint-resolved characterization of a pathogenic CEP290 tandem duplication encompassing exons 31-53 identified in compound heterozygosity with a pathogenic splice-site variant in a patient with early-onset retinal degeneration.

Shu-Bo Xu, Jia Geng, Wen-Yu Xiong et al. · 0 citations

We use cookies to run the site and, with your consent, for analytics and to show ads. See our Cookie Policy.