Varaico: Literature-Extracted Genetic Variants

Gene:POC1B
Variant:p.Y224*
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POC1B

NM_172240.3:p.Y224*

Associated Papers

POC1B-associated cone-rod dystrophy with bilateral optic disc swelling: A novel clinical observation.

Bamardouf N et al.

American Journal of Ophthalmology Case Reports, 2025

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Bakur K et al.

Genome Medicine, 2025

41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM6_ESM.xlsx › Sheet1

Phenotypic and genotypic features of POC1B-associated cone dystrophy.

Alzahem TA et al.

Ophthalmic Genetics, 2024

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