Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP616075.RABBzSvksKzyUUY-rseBcjdzV2D60ym5FLo_4H7mQzdhU130_assertion> ?p ?o ?g. }
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- NP616075.RABBzSvksKzyUUY-rseBcjdzV2D60ym5FLo_4H7mQzdhU130_assertion type Assertion NP616075.RABBzSvksKzyUUY-rseBcjdzV2D60ym5FLo_4H7mQzdhU130_head.
- NP616075.RABBzSvksKzyUUY-rseBcjdzV2D60ym5FLo_4H7mQzdhU130_assertion description "[We have searched for mutations in the maleylacetoacetate isomerase gene in four cases of unexplained severe liver failure in infancy with clinical similarities to hereditary tyrosinemia type I (pseudotyrosinemia).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP616075.RABBzSvksKzyUUY-rseBcjdzV2D60ym5FLo_4H7mQzdhU130_provenance.
- NP616075.RABBzSvksKzyUUY-rseBcjdzV2D60ym5FLo_4H7mQzdhU130_assertion evidence source_evidence_literature NP616075.RABBzSvksKzyUUY-rseBcjdzV2D60ym5FLo_4H7mQzdhU130_provenance.
- NP616075.RABBzSvksKzyUUY-rseBcjdzV2D60ym5FLo_4H7mQzdhU130_assertion SIO_000772 10373324 NP616075.RABBzSvksKzyUUY-rseBcjdzV2D60ym5FLo_4H7mQzdhU130_provenance.
- NP616075.RABBzSvksKzyUUY-rseBcjdzV2D60ym5FLo_4H7mQzdhU130_assertion wasDerivedFrom befree-20140225 NP616075.RABBzSvksKzyUUY-rseBcjdzV2D60ym5FLo_4H7mQzdhU130_provenance.
- NP616075.RABBzSvksKzyUUY-rseBcjdzV2D60ym5FLo_4H7mQzdhU130_assertion wasGeneratedBy ECO_0000203 NP616075.RABBzSvksKzyUUY-rseBcjdzV2D60ym5FLo_4H7mQzdhU130_provenance.