Varaico: Literature-Extracted Genetic Variants

Gene:TOPORS
Variant:p.R814C
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TOPORS

NM_005802.5:p.R814C

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

35579903 (PubMed )
Supplement: iovs-63-5-19_s004.xlsx › Sheet1

A Transposon Screen Identifies Loss of Primary Cilia as a Mechanism of Resistance to SMO Inhibitors.

Zhao X et al.

Cancer Discovery, 2017

28923910 (PubMed )
Supplement: 21598290cd170281-sup-180587_2_supp_4253409_2vv5jv.xls › untreated
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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."