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- source_evidence_literature type ECO_0000212 NP1345181.RAwb20HX7fKANCq2r59cRvAUOHmEB6QNbnA6qdr-P5778130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1345181.RAwb20HX7fKANCq2r59cRvAUOHmEB6QNbnA6qdr-P5778130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1345181.RAwb20HX7fKANCq2r59cRvAUOHmEB6QNbnA6qdr-P5778130_provenance.
- NP1345181.RAwb20HX7fKANCq2r59cRvAUOHmEB6QNbnA6qdr-P5778130_assertion description "[Both codon 273 and 318 mutations yielding frameshift and premature stop codons at codons 279 and 367, respectively, are predicted to result in an altered and truncated type II 3 beta-HSD protein, thereby causing salt-wasting 3 beta-HSD deficiency in the patient.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1345181.RAwb20HX7fKANCq2r59cRvAUOHmEB6QNbnA6qdr-P5778130_provenance.
- NP1345181.RAwb20HX7fKANCq2r59cRvAUOHmEB6QNbnA6qdr-P5778130_assertion evidence source_evidence_literature NP1345181.RAwb20HX7fKANCq2r59cRvAUOHmEB6QNbnA6qdr-P5778130_provenance.
- NP1345181.RAwb20HX7fKANCq2r59cRvAUOHmEB6QNbnA6qdr-P5778130_assertion SIO_000772 8550766 NP1345181.RAwb20HX7fKANCq2r59cRvAUOHmEB6QNbnA6qdr-P5778130_provenance.
- NP1345181.RAwb20HX7fKANCq2r59cRvAUOHmEB6QNbnA6qdr-P5778130_assertion wasDerivedFrom befree-2016 NP1345181.RAwb20HX7fKANCq2r59cRvAUOHmEB6QNbnA6qdr-P5778130_provenance.
- NP1345181.RAwb20HX7fKANCq2r59cRvAUOHmEB6QNbnA6qdr-P5778130_assertion wasGeneratedBy ECO_0000203 NP1345181.RAwb20HX7fKANCq2r59cRvAUOHmEB6QNbnA6qdr-P5778130_provenance.
- befree-2016 importedOn "2016-02-19" NP1345181.RAwb20HX7fKANCq2r59cRvAUOHmEB6QNbnA6qdr-P5778130_provenance.