Varaico: Literature-Extracted Genetic Variants

Gene:RBP3
Variant:p.L22P
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RBP3

NM_002900.3:p.L22P

Associated Papers

Functional Rescue of Retinal Degeneration-Associated Mutant RPE65 Proteins.

Jin M et al.

Advances in Experimental Medicine and Biology, 2016

Rescue of enzymatic function for disease-associated RPE65 proteins containing various missense mutations in non-active sites.

Li S et al.

The Journal of Biological Chemistry, 2014

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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."