Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.L38F
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RPE65

NM_000329.3:p.L38F

Associated Papers

Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.

Perrault I et al.

Plos One, 2013

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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."