Varaico: Literature-Extracted Genetic Variants

Gene:TOPORS
Variant:p.Q811E
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TOPORS

NM_005802.5:p.Q811E

Associated Papers

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

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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."