Varaico: Literature-Extracted Genetic Variants

Gene:UNC119
Variant:p.E201*
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UNC119

NM_005148.4:p.E201*

Associated Papers

Dysfunction of Unc119, a Transducin-Binding Protein, Leads to Cone-Rod Dystrophy through Activating JAK-Stat and NF-κB Inflammatory Pathways in the Mouse Retina.

Kobayashi K et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2025

Clinical-genetic findings in a group of subjects with macular dystrophies due to mutations in rare inherited retinopathy genes.

Zenteno JC et al.

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2023

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