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Q47845388-5FE55A48-D534-410F-9642-96D7E4B6A73C
Q47845388-5FE55A48-D534-410F-9642-96D7E4B6A73C
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Statement
http://www.wikidata.org/entity/statement/Q47845388-5FE55A48-D534-410F-9642-96D7E4B6A73C
Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3.
P2860
Q47845388-5FE55A48-D534-410F-9642-96D7E4B6A73C
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47845388-5FE55A48-D534-410F-9642-96D7E4B6A73C
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wasDerivedFrom
587bf6a7946b132d16847bf3d8c83d4f386acde2
P2860
Induction and myofibrillar targeting of CARP, and suppression of the Nkx2.5 pathway in the MDM mouse with impaired titin-based signaling