Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP6205.RAd5wI1z_CbNtc1mLTsatu3IGJiptdg1iP0uxK_YRXXdc130_assertion> ?p ?o ?g. }
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- NP6205.RAd5wI1z_CbNtc1mLTsatu3IGJiptdg1iP0uxK_YRXXdc130_assertion type Assertion NP6205.RAd5wI1z_CbNtc1mLTsatu3IGJiptdg1iP0uxK_YRXXdc130_head.
- NP6205.RAd5wI1z_CbNtc1mLTsatu3IGJiptdg1iP0uxK_YRXXdc130_assertion description "[Population frequencies for the most common mutated SLC6A19 alleles are 0.007 for 517G --> A and 0.001 for 718C --> T. Our findings indicate that SLC6A19 is the long-sought gene that is mutated in Hartnup disorder; its identification provides the opportunity to examine the inconsistent multisystemic features of this disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6205.RAd5wI1z_CbNtc1mLTsatu3IGJiptdg1iP0uxK_YRXXdc130_provenance.
- NP6205.RAd5wI1z_CbNtc1mLTsatu3IGJiptdg1iP0uxK_YRXXdc130_assertion evidence source_evidence_curated NP6205.RAd5wI1z_CbNtc1mLTsatu3IGJiptdg1iP0uxK_YRXXdc130_provenance.
- NP6205.RAd5wI1z_CbNtc1mLTsatu3IGJiptdg1iP0uxK_YRXXdc130_assertion SIO_000772 15286788 NP6205.RAd5wI1z_CbNtc1mLTsatu3IGJiptdg1iP0uxK_YRXXdc130_provenance.
- NP6205.RAd5wI1z_CbNtc1mLTsatu3IGJiptdg1iP0uxK_YRXXdc130_assertion wasDerivedFrom uniprot-20130724 NP6205.RAd5wI1z_CbNtc1mLTsatu3IGJiptdg1iP0uxK_YRXXdc130_provenance.
- NP6205.RAd5wI1z_CbNtc1mLTsatu3IGJiptdg1iP0uxK_YRXXdc130_assertion wasGeneratedBy ECO_0000218 NP6205.RAd5wI1z_CbNtc1mLTsatu3IGJiptdg1iP0uxK_YRXXdc130_provenance.