Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP313236.RAC0ZadEQ69qvJeQZs1zQUJ9EUXRrp1BVHXpsJm-o-ktg130_assertion> ?p ?o ?g. }
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- NP313236.RAC0ZadEQ69qvJeQZs1zQUJ9EUXRrp1BVHXpsJm-o-ktg130_assertion type Assertion NP313236.RAC0ZadEQ69qvJeQZs1zQUJ9EUXRrp1BVHXpsJm-o-ktg130_head.
- NP313236.RAC0ZadEQ69qvJeQZs1zQUJ9EUXRrp1BVHXpsJm-o-ktg130_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." NP313236.RAC0ZadEQ69qvJeQZs1zQUJ9EUXRrp1BVHXpsJm-o-ktg130_provenance.
- NP313236.RAC0ZadEQ69qvJeQZs1zQUJ9EUXRrp1BVHXpsJm-o-ktg130_assertion evidence source_evidence_literature NP313236.RAC0ZadEQ69qvJeQZs1zQUJ9EUXRrp1BVHXpsJm-o-ktg130_provenance.
- NP313236.RAC0ZadEQ69qvJeQZs1zQUJ9EUXRrp1BVHXpsJm-o-ktg130_assertion SIO_000772 11302742 NP313236.RAC0ZadEQ69qvJeQZs1zQUJ9EUXRrp1BVHXpsJm-o-ktg130_provenance.
- NP313236.RAC0ZadEQ69qvJeQZs1zQUJ9EUXRrp1BVHXpsJm-o-ktg130_assertion wasDerivedFrom befree-20150227 NP313236.RAC0ZadEQ69qvJeQZs1zQUJ9EUXRrp1BVHXpsJm-o-ktg130_provenance.
- NP313236.RAC0ZadEQ69qvJeQZs1zQUJ9EUXRrp1BVHXpsJm-o-ktg130_assertion wasGeneratedBy ECO_0000203 NP313236.RAC0ZadEQ69qvJeQZs1zQUJ9EUXRrp1BVHXpsJm-o-ktg130_provenance.