. . . . . . . "[The c.550delA mutation in CAPN3 was found in 8.1% of limb girdle muscular dystrophy and 1.9% of hyperCKemia patients/mutations (Val509Phe and Gln565Stop) have not been reported before.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2009-03-31"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:11:12+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .