No abstract available
MeSH terms
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Adaptor Proteins, Signal Transducing / genetics*
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Exome Sequencing
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Fatal Outcome
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Female
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Genetic Association Studies
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Genetic Variation
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Genotype
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Humans
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Infant
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Loss of Function Mutation
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Male
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Membrane Proteins / genetics*
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Mutation, Missense
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Pedigree
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Phenotype
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Spastic Paraplegia, Hereditary / diagnosis
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Spastic Paraplegia, Hereditary / genetics*
Substances
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ARL6IP1 protein, human
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Adaptor Proteins, Signal Transducing
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Membrane Proteins