No abstract available
MeSH terms
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ATPases Associated with Diverse Cellular Activities / genetics*
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Anemia, Hemolytic, Congenital / genetics*
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Anemia, Hemolytic, Congenital / pathology
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Bone Marrow / pathology
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Brain / diagnostic imaging
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Brain / pathology
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Child, Preschool
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Endosomal Sorting Complexes Required for Transport / genetics*
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Heterozygote
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Humans
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Leber Congenital Amaurosis / genetics
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Leber Congenital Amaurosis / pathology
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Magnetic Resonance Imaging
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Male
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Mutation, Missense
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Neurodevelopmental Disorders / genetics*
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Neurodevelopmental Disorders / pathology
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Neuroimaging
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Reticulocyte Count
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Vacuolar Proton-Translocating ATPases / genetics*
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Whole Genome Sequencing
Substances
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Endosomal Sorting Complexes Required for Transport
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Vacuolar Proton-Translocating ATPases
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ATPases Associated with Diverse Cellular Activities
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VPS4A protein, human