Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP980100.RAshteUENAVha7ElHoIkBWVfystKEWsdG6mVCHFvXyo7I130_assertion> ?p ?o ?g. }
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- NP980100.RAshteUENAVha7ElHoIkBWVfystKEWsdG6mVCHFvXyo7I130_assertion type Assertion NP980100.RAshteUENAVha7ElHoIkBWVfystKEWsdG6mVCHFvXyo7I130_head.
- NP980100.RAshteUENAVha7ElHoIkBWVfystKEWsdG6mVCHFvXyo7I130_assertion description "[Recessive mutations in the anoctamin-5 gene (ANO5) cause a spectrum of clinical phenotypes, including limb-girdle muscular dystrophy (LGMD 2L), distal myopathy, and asymptomatic hyperCKemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP980100.RAshteUENAVha7ElHoIkBWVfystKEWsdG6mVCHFvXyo7I130_provenance.
- NP980100.RAshteUENAVha7ElHoIkBWVfystKEWsdG6mVCHFvXyo7I130_assertion evidence source_evidence_literature NP980100.RAshteUENAVha7ElHoIkBWVfystKEWsdG6mVCHFvXyo7I130_provenance.
- NP980100.RAshteUENAVha7ElHoIkBWVfystKEWsdG6mVCHFvXyo7I130_assertion SIO_000772 24889862 NP980100.RAshteUENAVha7ElHoIkBWVfystKEWsdG6mVCHFvXyo7I130_provenance.
- NP980100.RAshteUENAVha7ElHoIkBWVfystKEWsdG6mVCHFvXyo7I130_assertion wasDerivedFrom befree-20150227 NP980100.RAshteUENAVha7ElHoIkBWVfystKEWsdG6mVCHFvXyo7I130_provenance.
- NP980100.RAshteUENAVha7ElHoIkBWVfystKEWsdG6mVCHFvXyo7I130_assertion wasGeneratedBy ECO_0000203 NP980100.RAshteUENAVha7ElHoIkBWVfystKEWsdG6mVCHFvXyo7I130_provenance.