No abstract available
MeSH terms
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Adrenal Cortex Diseases / genetics
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Adrenal Cortex Diseases / pathology
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Adult
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Bulbar Palsy, Progressive / genetics
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Bulbar Palsy, Progressive / pathology
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Esophageal Achalasia / genetics
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Esophageal Achalasia / pathology
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Humans
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Lacrimal Apparatus Diseases / genetics
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Lacrimal Apparatus Diseases / pathology
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Male
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Mutation / genetics
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Mutation / physiology
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Nerve Tissue Proteins / genetics
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Nuclear Pore Complex Proteins / genetics
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Pedigree
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Spasm / genetics
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Spasm / pathology
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Syndrome
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Tongue / pathology*
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Tongue Diseases / congenital
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Tongue Diseases / genetics
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Tongue Diseases / pathology*
Substances
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AAAS protein, human
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Nerve Tissue Proteins
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Nuclear Pore Complex Proteins