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Q24685930-3DF21C38-0A58-451A-BA53-AF82F5B6F07E
Q24685930-3DF21C38-0A58-451A-BA53-AF82F5B6F07E
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24685930-3DF21C38-0A58-451A-BA53-AF82F5B6F07E
A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency
P2860
Q24685930-3DF21C38-0A58-451A-BA53-AF82F5B6F07E
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24685930-3DF21C38-0A58-451A-BA53-AF82F5B6F07E
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type
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Statement
wasDerivedFrom
07a368733fd6c12005fcab214ed5595e9e3b1e09
P2860
Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy