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A splice site mutation in ATP6AP2 causes X-linked intellectual disability, epilepsy, and parkinsonism.
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has major subject area list
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Epilepsy; Intellectual Disability; Mental Retardation, X-Linked; Parkinsonian Disorders; Psychomotor Disorders; Receptors, Cell Surface; RNA Splice Sites; Vacuolar Proton-Translocating ATPases
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information resource reference
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Gupta HV, Vengoechea J, Sahaya K, Virmani T. A splice site mutation in ATP6AP2 causes X-linked intellectual disability, epilepsy, and parkinsonism. Parkinsonism Relat Disord. 2015 Dec; 21(12):1473-5.
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label
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A splice site mutation in ATP6AP2 causes X-linked intellectual disability, epilepsy, and parkinsonism.
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