Varaico: Literature-Extracted Genetic Variants

Gene:TOPORS
Variant:p.D850E
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TOPORS

NM_005802.5:p.D850E

Associated Papers

Mutations of TOPORS identified in families with retinitis pigmentosa.

He K et al.

Ophthalmic Genetics, 2022

Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

Eisenberger T et al.

Plos One, 2013

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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."