Varaico: Literature-Extracted Genetic Variants

Gene:TOPORS
Variant:p.G27R
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TOPORS

NM_005802.5:p.G27R

Associated Papers

Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features.

van Huet RA et al.

Acta Ophthalmologica, 2015

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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."