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CEP290
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NextBio Summary
General Info
Body Atlas
Most Correlated Tissues
Natural killer cell of peripheral blood
T Lymphocyte (regulatory) of peripheral blood
Hematopoietic stem cell of bone marrow
Granulocyte-macrophage progenitor cell of bone marrow
Colon mucosa
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Disease Atlas
Most Correlated Diseases
Bardet-Biedl syndrome
Myoneural disorder
Kidney disease
Disorder of brain
Retinal disorder
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Pharmaco Atlas
Most Correlated Compounds
deltaline
kavain
Biotin
depudecin
Bendroflumethiazide
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Knockdown Atlas
Most Correlated Gene Perturbations
TLR9
POLR3G
S100A10
ATF2
HPGDS
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Curated Studies
Most Correlated Studies
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Literature
Most Relevant Literature
Evaluation of novel compound variants of CEP290 in prenatally suspected case of Meckel syndrome thro…
A novel CEP290 disease-causing variant identified in a patient with leber congenital amaurosis using…
Knockout of the CEP290 gene in human induced pluripotent stem cells.
Super-resolution microscopy reveals photoreceptor-specific subciliary location and function of cilio…
Aggresome assembly at the centrosome is driven by CP110-CEP97-CEP290 and centriolar satellites.
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Clinical Trials
Most Relevant Clinical Trials
Natural History Study of CEP290-Related Retinal Degeneration
Assessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome
Study to Evaluate QR-110 in Leber's Congenital Amaurosis (LCA) Due to the c.2991+1655A>G Mutation (p…
An Open-label, Dose Escalation and Double-masked, Randomized, Controlled Trial Evaluating Safety and…
Single Ascending Dose Study in Participants With LCA10
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