Varaico: Literature-Extracted Genetic Variants

Gene:TOPORS
Variant:p.P20insFs
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TOPORS

NM_005802.5:p.P20insFs

Associated Papers

Autosomal Dominant Retinitis Pigmentosa-Associated TOPORS Protein Truncating Variants Are Exclusively Located in the Region of Amino Acid Residues 807 to 867.

Wang J et al.

Investigative Ophthalmology & Visual Science, 2022

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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."