Varaico: Literature-Extracted Genetic Variants

Gene:IQCB1
Variant:p.Q448insFs
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IQCB1

NM_001023570.4:p.Q448insFs

Associated Papers

Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4.

Wang J et al.

American Journal of Ophthalmology, 2023

Genotype and phenotype analysis and transplantation strategy in children with kidney failure caused by NPHP.

Li J et al.

Pediatric Nephrology (berlin, Germany), 2023

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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."