Associated Papers
Homozygous frameshift variant in POC1B causes male infertility with oligoasthenoteratozoospermia in human and mice.
Hua J et al.
Human Molecular Genetics, 2023
Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance.
Kameya S et al.
Investigative Ophthalmology & Visual Science, 2019
Case of cone dystrophy with normal fundus appearance associated with biallelic POC1B variants.
Kominami A et al.
Ophthalmic Genetics, 2018
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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