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Q36444605-6E6413BB-D435-4A74-A3FB-A840206B715A
Q36444605-6E6413BB-D435-4A74-A3FB-A840206B715A
BestRank
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http://www.wikidata.org/entity/statement/Q36444605-6E6413BB-D435-4A74-A3FB-A840206B715A
Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome.
P2860
Q36444605-6E6413BB-D435-4A74-A3FB-A840206B715A
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36444605-6E6413BB-D435-4A74-A3FB-A840206B715A
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wasDerivedFrom
485c6130a1cc6dfd2140e7d68fa44ace72207e3f
P2860
Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma