Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.T94I
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RPE65

NM_000329.3:p.T94I

Associated Papers

Discovery of non-retinoid compounds that suppress the pathogenic effects of misfolded rhodopsin in a mouse model of retinitis pigmentosa.

Ortega JT et al.

Plos Biology, 2025

39808594 (PubMed )
Supplement: pbio.3002932.s011.xlsx › Fig_6A

The molecular and cellular basis of rhodopsin retinitis pigmentosa reveals potential strategies for therapy.

Athanasiou D et al.

Progress in Retinal and Eye Research, 2018

In silico Mapping of Protein Unfolding Mutations for Inherited Disease.

McCafferty CL et al.

Scientific Reports, 2016

27905547 (PubMed )
Supplement: srep37298-s1.pdf

Constitutively active rhodopsin and retinal disease.

Park PS

Advances in Pharmacology (san Diego, Calif.), 2014

Confronting complexity: the interlink of phototransduction and retinoid metabolism in the vertebrate retina.

McBee JK et al.

Progress in Retinal and Eye Research, 2001

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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."