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Q24685930-3D34C52D-62FF-4DFE-BC36-F044D42ED823
Q24685930-3D34C52D-62FF-4DFE-BC36-F044D42ED823
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24685930-3D34C52D-62FF-4DFE-BC36-F044D42ED823
A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency
P2093
Q24685930-3D34C52D-62FF-4DFE-BC36-F044D42ED823
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24685930-3D34C52D-62FF-4DFE-BC36-F044D42ED823
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
aaf3e3d9d80c9bdc9dd6788cbcc848b9ed8a9d45
P1545
12
http://www.w3.org/2001/XMLSchema#string
P2093
J Uitto
http://www.w3.org/2001/XMLSchema#string