Varaico: Literature-Extracted Genetic Variants

Gene:IQCB1
Variant:p.Q357*
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IQCB1

NM_001023570.4:p.Q357*

Associated Papers

Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation.

Ronquillo CC et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2016

IQCB1 mutations in patients with leber congenital amaurosis.

Estrada-Cuzcano A et al.

Investigative Ophthalmology & Visual Science, 2011

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.

Otto EA et al.

Nature Genetics, 2005

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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."