Associated Papers
Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders.
Kim J et al.
Human Genomics, 2025
41331868 (PubMed )
Supplement: 40246_2025_855_MOESM1_ESM.xlsx › Table_S1.
Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia.
Nouri Z et al.
Bmc Medical Genomics, 2024
Clinical and Genetic Features of Korean Patients with Achromatopsia.
Choi YJ et al.
Genes, 2023
PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults.
Daich Varela M et al.
Investigative Ophthalmology & Visual Science, 2020
Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases.
Kim MS et al.
Journal of Korean Medical Science, 2019
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