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- source_evidence_literature type ECO_0000212 NP486416.RASBA86TdVAZUsW3247XLI6JJ9XO12h4uajElMpsAOXkg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP486416.RASBA86TdVAZUsW3247XLI6JJ9XO12h4uajElMpsAOXkg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP486416.RASBA86TdVAZUsW3247XLI6JJ9XO12h4uajElMpsAOXkg130_provenance.
- NP486416.RASBA86TdVAZUsW3247XLI6JJ9XO12h4uajElMpsAOXkg130_assertion description "[The main observations were: 1) all LGMD2E and LGMD2F patients had a severe condition, but considerable inter- and intra-familial clinical variability was observed among patients from all other groups; 2) serum CK activities showed the highest values in LGMD2D (alpha-SG) patients among sarcoglycanopathies and LGMD2B (dysferlin) patients among nonsarcoglycanopathies; 3) comparison between LGMD2A (CAPN3) and LGMD2B (dysferlin) showed that the first have on average a more severe course and have calf hypertrophy more frequently (86% versus 13%); and 4) inability to walk on toes was observed in approximately 70% of LGMD2B patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP486416.RASBA86TdVAZUsW3247XLI6JJ9XO12h4uajElMpsAOXkg130_provenance.
- NP486416.RASBA86TdVAZUsW3247XLI6JJ9XO12h4uajElMpsAOXkg130_assertion evidence source_evidence_literature NP486416.RASBA86TdVAZUsW3247XLI6JJ9XO12h4uajElMpsAOXkg130_provenance.
- NP486416.RASBA86TdVAZUsW3247XLI6JJ9XO12h4uajElMpsAOXkg130_assertion SIO_000772 10069710 NP486416.RASBA86TdVAZUsW3247XLI6JJ9XO12h4uajElMpsAOXkg130_provenance.
- NP486416.RASBA86TdVAZUsW3247XLI6JJ9XO12h4uajElMpsAOXkg130_assertion wasDerivedFrom befree-20140225 NP486416.RASBA86TdVAZUsW3247XLI6JJ9XO12h4uajElMpsAOXkg130_provenance.
- NP486416.RASBA86TdVAZUsW3247XLI6JJ9XO12h4uajElMpsAOXkg130_assertion wasGeneratedBy ECO_0000203 NP486416.RASBA86TdVAZUsW3247XLI6JJ9XO12h4uajElMpsAOXkg130_provenance.
- befree-20140225 importedOn "2014-02-25" NP486416.RASBA86TdVAZUsW3247XLI6JJ9XO12h4uajElMpsAOXkg130_provenance.