Varaico: Literature-Extracted Genetic Variants

Gene:TOPORS
Variant:p.R713K
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TOPORS

NM_005802.5:p.R713K

Associated Papers

Whole exome sequencing identifies CRB1 defect in an unusual maculopathy phenotype.

Tsang SH et al.

Ophthalmology, 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."