Varaico: Literature-Extracted Genetic Variants

Gene:TOPORS
Variant:p.Q811*
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TOPORS

NM_005802.5:p.Q811*

Associated Papers

Axial Length Profiles in Inherited Retinal Diseases-A Genotypic and Phenotypic Analysis.

Zhang L et al.

Investigative Ophthalmology & Visual Science, 2025

41117592 (PubMed )
Supplement: iovs-66-13-32_s002.xlsx › Sheet1

Autosomal Dominant Retinitis Pigmentosa Secondary to TOPORS Mutations: A Report of a Novel Mutation and Clinical Findings.

Eid AT et al.

Journal of Clinical Medicine, 2024

Mutations of TOPORS identified in families with retinitis pigmentosa.

He K et al.

Ophthalmic Genetics, 2022

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_s003.xlsx › Sheet1
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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."