Varaico: Literature-Extracted Genetic Variants

Gene:IQCB1
Variant:p.E508insFs
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IQCB1

NM_001023570.4:p.E508insFs

Associated Papers

Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.

Kang HG et al.

Experimental & Molecular Medicine, 2016

Diagnostic application of an extensive gene panel for Leber congenital amaurosis with severe genetic heterogeneity.

Seong MW et al.

The Journal of Molecular Diagnostics : Jmd, 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."