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Q44909039-36C429A9-98A0-41BA-A828-5BA9C9BDECC1
Q44909039-36C429A9-98A0-41BA-A828-5BA9C9BDECC1
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Statement
http://www.wikidata.org/entity/statement/Q44909039-36C429A9-98A0-41BA-A828-5BA9C9BDECC1
Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A.
P2860
Q44909039-36C429A9-98A0-41BA-A828-5BA9C9BDECC1
BestRank
Statement
http://www.wikidata.org/entity/statement/Q44909039-36C429A9-98A0-41BA-A828-5BA9C9BDECC1
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wasDerivedFrom
4b033354d5a080a59b417e0452db79672a2b57ef
P2860
A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome