No abstract available
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adaptor Proteins, Signal Transducing / genetics*
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Amino Acid Sequence
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Base Sequence
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Coloboma / diagnosis
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Coloboma / genetics*
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Exome / genetics
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Genes, Dominant
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Heterozygote
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Humans
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Iris / abnormalities*
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Iris / pathology
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Male
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Molecular Sequence Data
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Mutation*
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Pedigree
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Phosphoproteins / genetics*
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Retina / abnormalities*
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Retina / pathology
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Tomography, Optical Coherence
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Transcription Factors
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Visual Acuity / physiology
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YAP-Signaling Proteins
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Young Adult
Substances
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Adaptor Proteins, Signal Transducing
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Phosphoproteins
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Transcription Factors
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YAP-Signaling Proteins
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YAP1 protein, human