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retinal dystrophy, early-onset
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ABCA4
The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease
Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene
Interaction of glutamic-acid-rich proteins with the cGMP signalling pathway in rod photoreceptors
A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease
LRAT
Molecular and biochemical characterization of lecithin retinol acyltransferase
OTX2
Identification of OTX2 as a medulloblastoma oncogene whose product can be targeted by all-trans retinoic acid
Heterozygous mutations of OTX2 cause severe ocular malformations
The transcription factor Engrailed-2 guides retinal axons
Cancer Gene Census
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Definition
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Pathways
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Clinical Trials
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External
Natural History of Eye Diseases Related to ABCA4 Mutations