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Q40086487-3CEE3FDB-DA77-4FFE-B315-AD0B3B3BE452
Q40086487-3CEE3FDB-DA77-4FFE-B315-AD0B3B3BE452
BestRank
Statement
http://www.wikidata.org/entity/statement/Q40086487-3CEE3FDB-DA77-4FFE-B315-AD0B3B3BE452
Glu20Ter Variant in PLEC 1f Isoform Causes Limb-Girdle Muscle Dystrophy with Lung Injury.
P2860
Q40086487-3CEE3FDB-DA77-4FFE-B315-AD0B3B3BE452
BestRank
Statement
http://www.wikidata.org/entity/statement/Q40086487-3CEE3FDB-DA77-4FFE-B315-AD0B3B3BE452
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wasDerivedFrom
551a76e0ff268c5ede15b426b92e73cddcc6bae9
P2860
Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy