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Q37361311-8B8411D0-AC44-428C-B0E1-463FE4EC132B
Q37361311-8B8411D0-AC44-428C-B0E1-463FE4EC132B
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Statement
http://www.wikidata.org/entity/statement/Q37361311-8B8411D0-AC44-428C-B0E1-463FE4EC132B
A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy.
P2860
Q37361311-8B8411D0-AC44-428C-B0E1-463FE4EC132B
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37361311-8B8411D0-AC44-428C-B0E1-463FE4EC132B
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Statement
wasDerivedFrom
d8f70a66e1d13acac76effb8872d7fe906bac030
P2860
A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex.