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Q37782390-731E2248-369F-4C3A-B5BF-FBF1CA8E9470
Q37782390-731E2248-369F-4C3A-B5BF-FBF1CA8E9470
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Statement
http://www.wikidata.org/entity/statement/Q37782390-731E2248-369F-4C3A-B5BF-FBF1CA8E9470
Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes.
P2860
Q37782390-731E2248-369F-4C3A-B5BF-FBF1CA8E9470
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37782390-731E2248-369F-4C3A-B5BF-FBF1CA8E9470
rank
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type
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Statement
wasDerivedFrom
9b180d1f234285dd8019ee081cb9af01d56baad0
P2860
Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency