Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP723439.RAGMnI0l6ADU2WWzBVIPO7t8n-Rq2Np8HT8BWgwOyuFwo130_assertion> ?p ?o ?g. }
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- NP723439.RAGMnI0l6ADU2WWzBVIPO7t8n-Rq2Np8HT8BWgwOyuFwo130_assertion type Assertion NP723439.RAGMnI0l6ADU2WWzBVIPO7t8n-Rq2Np8HT8BWgwOyuFwo130_head.
- NP723439.RAGMnI0l6ADU2WWzBVIPO7t8n-Rq2Np8HT8BWgwOyuFwo130_assertion description "[In two independent patients with classical xanthinuria type II, we identified a C to T base substitution at nucleotide 1255 in the HMCS gene that should cause a CGA (Arg) to TGA (Ter) nonsense substitution at codon 419.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP723439.RAGMnI0l6ADU2WWzBVIPO7t8n-Rq2Np8HT8BWgwOyuFwo130_provenance.
- NP723439.RAGMnI0l6ADU2WWzBVIPO7t8n-Rq2Np8HT8BWgwOyuFwo130_assertion evidence source_evidence_literature NP723439.RAGMnI0l6ADU2WWzBVIPO7t8n-Rq2Np8HT8BWgwOyuFwo130_provenance.
- NP723439.RAGMnI0l6ADU2WWzBVIPO7t8n-Rq2Np8HT8BWgwOyuFwo130_assertion SIO_000772 11302742 NP723439.RAGMnI0l6ADU2WWzBVIPO7t8n-Rq2Np8HT8BWgwOyuFwo130_provenance.
- NP723439.RAGMnI0l6ADU2WWzBVIPO7t8n-Rq2Np8HT8BWgwOyuFwo130_assertion wasDerivedFrom befree-20150227 NP723439.RAGMnI0l6ADU2WWzBVIPO7t8n-Rq2Np8HT8BWgwOyuFwo130_provenance.
- NP723439.RAGMnI0l6ADU2WWzBVIPO7t8n-Rq2Np8HT8BWgwOyuFwo130_assertion wasGeneratedBy ECO_0000203 NP723439.RAGMnI0l6ADU2WWzBVIPO7t8n-Rq2Np8HT8BWgwOyuFwo130_provenance.