Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP836388.RA6P6IecsQUELinnEyqjHBDSN2fnLewuB0eaBiXL0V180130_assertion> ?p ?o ?g. }
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- NP836388.RA6P6IecsQUELinnEyqjHBDSN2fnLewuB0eaBiXL0V180130_assertion type Assertion NP836388.RA6P6IecsQUELinnEyqjHBDSN2fnLewuB0eaBiXL0V180130_head.
- NP836388.RA6P6IecsQUELinnEyqjHBDSN2fnLewuB0eaBiXL0V180130_assertion description "[Tyrosinaemia I (fumarylacetoacetate hydrolase deficiency) is an autosomal recessive inborn error of tyrosine metabolism that produces liver failure in infancy or a more chronic course of liver disease with cirrhosis, often complicated by hepatocellular carcinoma, in childhood or early adolescence.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP836388.RA6P6IecsQUELinnEyqjHBDSN2fnLewuB0eaBiXL0V180130_provenance.
- NP836388.RA6P6IecsQUELinnEyqjHBDSN2fnLewuB0eaBiXL0V180130_assertion evidence source_evidence_literature NP836388.RA6P6IecsQUELinnEyqjHBDSN2fnLewuB0eaBiXL0V180130_provenance.
- NP836388.RA6P6IecsQUELinnEyqjHBDSN2fnLewuB0eaBiXL0V180130_assertion SIO_000772 11196105 NP836388.RA6P6IecsQUELinnEyqjHBDSN2fnLewuB0eaBiXL0V180130_provenance.
- NP836388.RA6P6IecsQUELinnEyqjHBDSN2fnLewuB0eaBiXL0V180130_assertion wasDerivedFrom befree-20140225 NP836388.RA6P6IecsQUELinnEyqjHBDSN2fnLewuB0eaBiXL0V180130_provenance.
- NP836388.RA6P6IecsQUELinnEyqjHBDSN2fnLewuB0eaBiXL0V180130_assertion wasGeneratedBy ECO_0000203 NP836388.RA6P6IecsQUELinnEyqjHBDSN2fnLewuB0eaBiXL0V180130_provenance.