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Q47845388-07EBCC4B-2E32-4184-B283-954D2DE750F1
Q47845388-07EBCC4B-2E32-4184-B283-954D2DE750F1
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47845388-07EBCC4B-2E32-4184-B283-954D2DE750F1
Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3.
P2860
Q47845388-07EBCC4B-2E32-4184-B283-954D2DE750F1
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47845388-07EBCC4B-2E32-4184-B283-954D2DE750F1
rank
NormalRank
type
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wasDerivedFrom
587bf6a7946b132d16847bf3d8c83d4f386acde2
P2860
Calpainopathy-a survey of mutations and polymorphisms.