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Q46015980-819CDA7E-C45F-43B9-97FC-2AEB4A1C5C0A
Q46015980-819CDA7E-C45F-43B9-97FC-2AEB4A1C5C0A
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http://www.wikidata.org/entity/statement/Q46015980-819CDA7E-C45F-43B9-97FC-2AEB4A1C5C0A
Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease.
P2860
Q46015980-819CDA7E-C45F-43B9-97FC-2AEB4A1C5C0A
BestRank
Statement
http://www.wikidata.org/entity/statement/Q46015980-819CDA7E-C45F-43B9-97FC-2AEB4A1C5C0A
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wasDerivedFrom
12b6dc39dab8337a96d6722225bd76229ecc5eda
P2860
Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations.