Varaico: Literature-Extracted Genetic Variants

Gene:TOPORS
Variant:p.Y825fs
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TOPORS

NM_005802.5:p.Y825fs

Associated Papers

TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein.

Chakarova CF et al.

Human Molecular Genetics, 2011

Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy.

Chakarova CF et al.

American Journal of Human Genetics, 2007

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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."