Associated Papers
Mutational spectrum in a Chinese cohort with congenital cataracts.
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Molecular Genetics & Genomic Medicine, 2023
37337769 (PubMed )
Supplement: MGG3-11-e2196-s001.xlsx › Sheet2
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
36729443 (PubMed )
Supplement: iovs-64-2-5_s003.xlsx › All_Identified_Causative_Mutant
Exome Sequencing Identified Molecular Determinants of Retinal Dystrophies in Nine Consanguineous Pakistani Families.
Tehreem R et al.
Genes, 2022
Mutation Survey of Candidate Genes and Genotype-Phenotype Analysis in 20 Southeastern Chinese Patients with Axenfeld-Rieger Syndrome.
Wang X et al.
Current Eye Research, 2018
Clinical and molecular aspects of aniridia.
Kokotas H et al.
Clinical Genetics, 2010
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