Varaico: Literature-Extracted Genetic Variants

Gene:OCA2
Variant:p.L166_S169del0
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OCA2

NM_000275.3:p.L166_S169del0

Associated Papers

Foveal Hypoplasia in CRB1-Related Retinopathies.

Rodriguez-Martinez AC et al.

International Journal of Molecular Sciences, 2023

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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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."