Varaico: Literature-Extracted Genetic Variants

Gene:IQCB1
Variant:p.R445*
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IQCB1

NM_001023570.4:p.R445*

Associated Papers

Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort.

Vincke L et al.

Npj Genomic Medicine, 2025

40055385 (PubMed )
Supplement: 41525_2025_473_MOESM2_ESM.xlsx › Sheet1

Genetic analysis assists diagnosis of clinical systemic disease in children with excessive hyperopia.

Wen S et al.

Bmc Pediatrics, 2022

Spectrum of Mutations in Pediatric Non-glomerular Chronic Kidney Disease Stages 2-5.

Wang X et al.

Frontiers in Genetics, 2021

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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."