Varaico: Literature-Extracted Genetic Variants

Gene:IQCB1
Variant:p.R358_A359insFs
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IQCB1

NM_001023570.4:p.R358_A359insFs

Associated Papers

Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.

Bouzidi A et al.

Orphanet Journal of Rare Diseases, 2022

35551639 (PubMed )
Supplement: 13023_2022_2340_MOESM2_ESM.xlsx › Feuil_1

Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis.

Coppieters F et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2012

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."