Varaico: Literature-Extracted Genetic Variants

Gene:CEP290
Variant:p.Q1633*
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CEP290

NM_025114.4:p.Q1633*

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

Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan.

Chen TC et al.

Npj Genomic Medicine, 2021

33608557 (PubMed )
Supplement: 41525_2021_180_MOESM2_ESM.xlsx › ___1

Molecular genetics of Leber congenital amaurosis in Chinese: New data from 66 probands and mutation overview of 159 probands.

Xu Y et al.

Experimental Eye Research, 2016

Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.

Li L et al.

Plos One, 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."