Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.K498_N506del9
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RPE65

NM_000329.3:p.K498_N506del9

Associated Papers

CRB1-associated retinal dystrophies in a Belgian cohort: genetic characteristics and long-term clinical follow-up.

Talib M et al.

The British Journal of Ophthalmology, 2022

Multimodal Retinal Imaging and Microperimetry Reveal a Novel Phenotype and Potential Trial End Points in CRB1-Associated Retinopathies.

Roshandel D et al.

Translational Vision Science & Technology, 2021

Hypomorphic variants in inherited retinal and ocular diseases: A review of the literature with clinical cases.

Thuma TBT et al.

Survey of Ophthalmology, 0

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