Varaico: Literature-Extracted Genetic Variants

Gene:IQCB1
Variant:p.A512insFs
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IQCB1

NM_001023570.4:p.A512insFs

Associated Papers

Next-generation genetic testing for retinitis pigmentosa.

Neveling K et al.

Human Mutation, 2012

22334370 (PubMed )
Supplement: humu0033-0963-sd1.pdf

IQCB1 mutations in patients with leber congenital amaurosis.

Estrada-Cuzcano A et al.

Investigative Ophthalmology & Visual Science, 2011

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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."