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    {
        "title": "Charcot-Marie-Tooth 2B mutations in rab7 cause dosage-dependent neurodegeneration due to partial loss of function.",
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        "date": "2013-12-10",
        "authors": "Cherry Smita, Jin Eugene Jennifer, Ozel Mehmet Neset, Lu Zhiyuan, Agi Egemen, Wang Dong, Jung Wei-Hung, Epstein Daniel, Meinertzhagen Ian A, Chan Chih-Chiang, Hiesinger P Robin",
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            {
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                "comment": "Mutation with reduced function that causes Charcot-Marie-Tooth 2B in humans. No detectable effect on viability, lifespan or behavior in heterozygous individuals. Associated with structures lacking other endosomal markers that accumulate in the center of motor neuron presynaptic boutons and in the photoreceptor synaptic layer. Reduced association with endosomal structures. Can rescue null mutant phenotype.",
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            {
                "start_pos": 161,
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                "uniprot_canonical_ac": "O76742-1"
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            {
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                "comment": "Mutation with reduced function that causes Charcot-Marie-Tooth 2B in humans. No detectable effect on viability, lifespan or behavior in heterozygous individuals. Associated with structures lacking other endosomal markers that accumulate in the center of motor neuron presynaptic boutons and in the photoreceptor synaptic layer. Reduced association with endosomal structures. Can rescue null mutant phenotype.",
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