Associated Papers
Revealing Molecular Diagnosis With Whole Exome Sequencing in Patients With Inherited Retinal Disorders.
Yavas C et al.
Clinical Genetics, 2025
Clinical Characteristics of POC1B-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants.
Weisschuh N et al.
International Journal of Molecular Sciences, 2021
Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.
Roosing S et al.
American Journal of Human Genetics, 2014
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