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Q48575004-EB0CF97C-C530-4252-AE17-B46F0E61342E
Q48575004-EB0CF97C-C530-4252-AE17-B46F0E61342E
BestRank
Statement
http://www.wikidata.org/entity/statement/Q48575004-EB0CF97C-C530-4252-AE17-B46F0E61342E
Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy.
P2860
Q48575004-EB0CF97C-C530-4252-AE17-B46F0E61342E
BestRank
Statement
http://www.wikidata.org/entity/statement/Q48575004-EB0CF97C-C530-4252-AE17-B46F0E61342E
rank
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type
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Statement
wasDerivedFrom
d16b7c9903e1f6306e336997e4235d4199fea39e
P2860
A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency