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Q35896989-09380978-1D19-47E7-8CD2-AFB3A24EA636
Q35896989-09380978-1D19-47E7-8CD2-AFB3A24EA636
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35896989-09380978-1D19-47E7-8CD2-AFB3A24EA636
An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.
P2860
Q35896989-09380978-1D19-47E7-8CD2-AFB3A24EA636
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35896989-09380978-1D19-47E7-8CD2-AFB3A24EA636
rank
NormalRank
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Statement
wasDerivedFrom
ae66131eac48fb79e4e7814a3d9c82a27e7c6d8f
P2860
Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy