Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP789482.RAuGugZHfcPoh_QnMDu0c0ZRKbsHEQxQ-nqFCXDZZoWyA130_assertion> ?p ?o ?g. }
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- NP789482.RAuGugZHfcPoh_QnMDu0c0ZRKbsHEQxQ-nqFCXDZZoWyA130_assertion type Assertion NP789482.RAuGugZHfcPoh_QnMDu0c0ZRKbsHEQxQ-nqFCXDZZoWyA130_head.
- NP789482.RAuGugZHfcPoh_QnMDu0c0ZRKbsHEQxQ-nqFCXDZZoWyA130_assertion description "[Tyrosinemia type II (Richner-Hanhart syndrome, RHS) is a disorder of autosomal recessive inheritance characterized by keratitis, palmoplantar hyperkeratosis, mental retardation, and elevated blood tyrosine levels.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP789482.RAuGugZHfcPoh_QnMDu0c0ZRKbsHEQxQ-nqFCXDZZoWyA130_provenance.
- NP789482.RAuGugZHfcPoh_QnMDu0c0ZRKbsHEQxQ-nqFCXDZZoWyA130_assertion evidence source_evidence_literature NP789482.RAuGugZHfcPoh_QnMDu0c0ZRKbsHEQxQ-nqFCXDZZoWyA130_provenance.
- NP789482.RAuGugZHfcPoh_QnMDu0c0ZRKbsHEQxQ-nqFCXDZZoWyA130_assertion SIO_000772 9544843 NP789482.RAuGugZHfcPoh_QnMDu0c0ZRKbsHEQxQ-nqFCXDZZoWyA130_provenance.
- NP789482.RAuGugZHfcPoh_QnMDu0c0ZRKbsHEQxQ-nqFCXDZZoWyA130_assertion wasDerivedFrom befree-20140225 NP789482.RAuGugZHfcPoh_QnMDu0c0ZRKbsHEQxQ-nqFCXDZZoWyA130_provenance.
- NP789482.RAuGugZHfcPoh_QnMDu0c0ZRKbsHEQxQ-nqFCXDZZoWyA130_assertion wasGeneratedBy ECO_0000203 NP789482.RAuGugZHfcPoh_QnMDu0c0ZRKbsHEQxQ-nqFCXDZZoWyA130_provenance.