Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP900103.RA6rzm_HFT29P4p0CoY79H4U5CAEuXdwzV53fmA5fQsTo130_assertion> ?p ?o ?g. }
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- NP900103.RA6rzm_HFT29P4p0CoY79H4U5CAEuXdwzV53fmA5fQsTo130_assertion type Assertion NP900103.RA6rzm_HFT29P4p0CoY79H4U5CAEuXdwzV53fmA5fQsTo130_head.
- NP900103.RA6rzm_HFT29P4p0CoY79H4U5CAEuXdwzV53fmA5fQsTo130_assertion description "[By genotyping several putative disease loci using microsatellite markers we were able to describe a new NDUFS7 mutation in a consanguineous family with Leigh syndrome and isolated complex I deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP900103.RA6rzm_HFT29P4p0CoY79H4U5CAEuXdwzV53fmA5fQsTo130_provenance.
- NP900103.RA6rzm_HFT29P4p0CoY79H4U5CAEuXdwzV53fmA5fQsTo130_assertion evidence source_evidence_literature NP900103.RA6rzm_HFT29P4p0CoY79H4U5CAEuXdwzV53fmA5fQsTo130_provenance.
- NP900103.RA6rzm_HFT29P4p0CoY79H4U5CAEuXdwzV53fmA5fQsTo130_assertion SIO_000772 17604671 NP900103.RA6rzm_HFT29P4p0CoY79H4U5CAEuXdwzV53fmA5fQsTo130_provenance.
- NP900103.RA6rzm_HFT29P4p0CoY79H4U5CAEuXdwzV53fmA5fQsTo130_assertion wasDerivedFrom befree-20140225 NP900103.RA6rzm_HFT29P4p0CoY79H4U5CAEuXdwzV53fmA5fQsTo130_provenance.
- NP900103.RA6rzm_HFT29P4p0CoY79H4U5CAEuXdwzV53fmA5fQsTo130_assertion wasGeneratedBy ECO_0000203 NP900103.RA6rzm_HFT29P4p0CoY79H4U5CAEuXdwzV53fmA5fQsTo130_provenance.