Varaico: Literature-Extracted Genetic Variants

Gene:CEP290
Variant:p.E1572*
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CEP290

NM_025114.4:p.E1572*

Associated Papers

The genetic landscape of inherited retinal dystrophies in Arabs.

Jaffal L et al.

Bmc Medical Genomics, 2023

37127645 (PubMed )
Supplement: 12920_2023_1518_MOESM2_ESM.xlsx › Sheet1

Characterizing the morbid genome of ciliopathies.

Shaheen R et al.

Genome Biology, 2016

27894351 (PubMed )
Supplement: 13059_2016_1099_MOESM2_ESM.xlsx › Sheet1

Mutation spectrum of Joubert syndrome and related disorders among Arabs.

Ben-Salem S et al.

Human Genome Variation, 2014

Molecular characterization of Joubert syndrome in Saudi Arabia.

Alazami AM et al.

Human Mutation, 2012

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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."