Advances on gene therapy for USH2A exon 13 related inherited retinal dystrophy
Article in Chinese Journal of Ophthalmology (December 2023)
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A novel compound heterozygous PCDH15 variants may be associated with arRP in a Chinese pedigree
Preprint in Research Square (December 2023)
Case report: Compound heterozygous nonsense PCDH15 variant and a novel deep‐intronic variant in a Chinese child with profound hearing loss
Article in Molecular Genetics & Genomic Medicine (May 2023)