Varaico: Literature-Extracted Genetic Variants

Gene:CEP290
Variant:p.E1902*
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CEP290

NM_025114.4:p.E1902*

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

Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families.

Moudi M et al.

Journal of Clinical Laboratory Analysis, 2022

Characterizing the morbid genome of ciliopathies.

Shaheen R et al.

Genome Biology, 2016

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

Identification of a new homozygous CEP290 gene mutation in a Saudi Family causing joubert syndrome using next-generation sequencing.

Abdelgadir E et al.

Saudi Journal of Kidney Diseases and Transplantation : an Official Publication of the Saudi Center for Organ Transplantation, Saudi Arabia, 0

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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."