Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP223057.RAajZYMwgTYapfyoawtY3MSNuD5QAfs0hzg3MbvGtx0t0130_assertion> ?p ?o ?g. }
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- NP223057.RAajZYMwgTYapfyoawtY3MSNuD5QAfs0hzg3MbvGtx0t0130_assertion type Assertion NP223057.RAajZYMwgTYapfyoawtY3MSNuD5QAfs0hzg3MbvGtx0t0130_head.
- NP223057.RAajZYMwgTYapfyoawtY3MSNuD5QAfs0hzg3MbvGtx0t0130_assertion description "[Mutations in the human ATGL gene are associated with neutral lipid storage disease with myopathy, a rare genetic disease characterized by excessive accumulation of TG in multiple tissues.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP223057.RAajZYMwgTYapfyoawtY3MSNuD5QAfs0hzg3MbvGtx0t0130_provenance.
- NP223057.RAajZYMwgTYapfyoawtY3MSNuD5QAfs0hzg3MbvGtx0t0130_assertion evidence source_evidence_literature NP223057.RAajZYMwgTYapfyoawtY3MSNuD5QAfs0hzg3MbvGtx0t0130_provenance.
- NP223057.RAajZYMwgTYapfyoawtY3MSNuD5QAfs0hzg3MbvGtx0t0130_assertion SIO_000772 21828047 NP223057.RAajZYMwgTYapfyoawtY3MSNuD5QAfs0hzg3MbvGtx0t0130_provenance.
- NP223057.RAajZYMwgTYapfyoawtY3MSNuD5QAfs0hzg3MbvGtx0t0130_assertion wasDerivedFrom befree-20140225 NP223057.RAajZYMwgTYapfyoawtY3MSNuD5QAfs0hzg3MbvGtx0t0130_provenance.
- NP223057.RAajZYMwgTYapfyoawtY3MSNuD5QAfs0hzg3MbvGtx0t0130_assertion wasGeneratedBy ECO_0000203 NP223057.RAajZYMwgTYapfyoawtY3MSNuD5QAfs0hzg3MbvGtx0t0130_provenance.