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rs6983267
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achromatopsia
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
OPN1LW
OPN1MW
RAB11FIP1
CNGA3
CNGB3
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
detection of light stimulus
photoreceptor cell cilium
9+0 non-motile cilium
sensory perception of light stimulus
cilium
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Curated Studies
Most Correlated Studies
Retinas of dogs with CNGB3-D262N mutation induced achromatopsic treated with intravitreal CNTF
Mouse Phenotypes - Unspecified hereditary retinal dystrophies
OMIM - Congenital disorder
OMIM - Blue cone monochromacy
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Literature
Most Relevant Literature
Achromatopsia: Genetics and Gene Therapy.
A new mutation in the PDE6C gene in achromatopsia.
Not Available].
Diffractive Achromat with Freeform Slope for Broadband Imaging over a Long Focal Depth.
Morphological and Functional Aspects and Quality of Life in Patients with Achromatopsia.
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Clinical Trials
Most Relevant Clinical Trials
Gene Therapy for Achromatopsia (CNGB3)
Gene Therapy for Achromatopsia (CNGA3)
Clinical and Genetic Characterization of Individuals With Achromatopsia
CNTF Implants for CNGB3 Achromatopsia
Natural History Study for Achromatopsia
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