Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.Q4R
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RPE65

NM_000329.3:p.Q4R

Associated Papers

Using patient-specific induced pluripotent stem cells to interrogate the pathogenicity of a novel retinal pigment epithelium-specific 65 kDa cryptic splice site mutation and confirm eligibility for enrollment into a clinical gene augmentation trial.

Tucker BA et al.

Translational Research : the Journal of Laboratory and Clinical Medicine, 2015

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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."