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Disease name
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Scapuloperoneal amyotrophy
Scapuloperoneal amyotrophy
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Marker gene
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Gene symbol
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Chromosome location
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Protein name
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TRPV4
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12q24.11 |
Transient receptor potential cation channel subfamily V member 4 |
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Inheritance
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X 연관 우성, 상염색체 우성 |
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ICD 10 code
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G12.1 |
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MIM number
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181400
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181405
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181430
|
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300695
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Synonym
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Kaeser syndrome |
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Neurogenic scapuloperoneal syndrome |
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Stark-Kaeser syndrome |
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Summary
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Under development. |
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