Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP730296.RAAXtSkfxDYPy2hum1_hJ7ams5EsaeA9HT-4f6gUhLScc130_assertion> ?p ?o ?g. }
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- NP730296.RAAXtSkfxDYPy2hum1_hJ7ams5EsaeA9HT-4f6gUhLScc130_assertion type Assertion NP730296.RAAXtSkfxDYPy2hum1_hJ7ams5EsaeA9HT-4f6gUhLScc130_head.
- NP730296.RAAXtSkfxDYPy2hum1_hJ7ams5EsaeA9HT-4f6gUhLScc130_assertion description "[Although the clinical spectrum of PDC deficiency is broad, the dominant clinical phenotype includes presentation during the first year of life; neurological and neuromuscular degeneration; structural lesions revealed by neuroimaging; lactic acidosis and a blood lactate:pyruvate ratio ?20.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP730296.RAAXtSkfxDYPy2hum1_hJ7ams5EsaeA9HT-4f6gUhLScc130_provenance.
- NP730296.RAAXtSkfxDYPy2hum1_hJ7ams5EsaeA9HT-4f6gUhLScc130_assertion evidence source_evidence_literature NP730296.RAAXtSkfxDYPy2hum1_hJ7ams5EsaeA9HT-4f6gUhLScc130_provenance.
- NP730296.RAAXtSkfxDYPy2hum1_hJ7ams5EsaeA9HT-4f6gUhLScc130_assertion SIO_000772 22079328 NP730296.RAAXtSkfxDYPy2hum1_hJ7ams5EsaeA9HT-4f6gUhLScc130_provenance.
- NP730296.RAAXtSkfxDYPy2hum1_hJ7ams5EsaeA9HT-4f6gUhLScc130_assertion wasDerivedFrom befree-20140225 NP730296.RAAXtSkfxDYPy2hum1_hJ7ams5EsaeA9HT-4f6gUhLScc130_provenance.
- NP730296.RAAXtSkfxDYPy2hum1_hJ7ams5EsaeA9HT-4f6gUhLScc130_assertion wasGeneratedBy ECO_0000203 NP730296.RAAXtSkfxDYPy2hum1_hJ7ams5EsaeA9HT-4f6gUhLScc130_provenance.