No abstract available
MeSH terms
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Abnormalities, Multiple / genetics*
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Adolescent
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Adult
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Face / abnormalities
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Female
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Genetic Linkage*
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Humans
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Intellectual Disability / genetics*
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Japan
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Male
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Membrane Proteins / genetics*
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Muscle Hypotonia / genetics
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Neutropenia / genetics
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Pedigree
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Phenotype
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Syndrome
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Vesicular Transport Proteins
Substances
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Membrane Proteins
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VPS13B protein, human
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Vesicular Transport Proteins