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Q24309219-3FA9BBB5-9FC8-412C-8361-8655B0A969B9
Q24309219-3FA9BBB5-9FC8-412C-8361-8655B0A969B9
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Statement
http://www.wikidata.org/entity/statement/Q24309219-3FA9BBB5-9FC8-412C-8361-8655B0A969B9
Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy
P2860
Q24309219-3FA9BBB5-9FC8-412C-8361-8655B0A969B9
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24309219-3FA9BBB5-9FC8-412C-8361-8655B0A969B9
rank
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type
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wasDerivedFrom
12071729057c37a00cfc7bf5964ae73de1f4ce2a
P2860
Unusual 5' transcript complexity of plectin isoforms: novel tissue-specific exons modulate actin binding activity.