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- source_evidence_literature type ECO_0000212 NP249832.RAHEYEuhbPeDqu1kJjFyM2MdDq_WeP3BhtdsFfArWqgdI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP249832.RAHEYEuhbPeDqu1kJjFyM2MdDq_WeP3BhtdsFfArWqgdI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP249832.RAHEYEuhbPeDqu1kJjFyM2MdDq_WeP3BhtdsFfArWqgdI130_provenance.
- NP249832.RAHEYEuhbPeDqu1kJjFyM2MdDq_WeP3BhtdsFfArWqgdI130_assertion description "[We studied membrane binding and enzyme function of six variant forms of human steroid 21-hydroxylase (P450c21), a mutant (P30Q) from a patient with congenital adrenal hyperplasia, four artificial deletions in the amino terminal region (delS1 and del S2; the first and second hydrophobic segment, delS3; the region in between, delS4; the combination of these), and one naturally ocurring polymorphism in a region implicated to be critical for membrane integration (delL10).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP249832.RAHEYEuhbPeDqu1kJjFyM2MdDq_WeP3BhtdsFfArWqgdI130_provenance.
- NP249832.RAHEYEuhbPeDqu1kJjFyM2MdDq_WeP3BhtdsFfArWqgdI130_assertion evidence source_evidence_literature NP249832.RAHEYEuhbPeDqu1kJjFyM2MdDq_WeP3BhtdsFfArWqgdI130_provenance.
- NP249832.RAHEYEuhbPeDqu1kJjFyM2MdDq_WeP3BhtdsFfArWqgdI130_assertion SIO_000772 10198222 NP249832.RAHEYEuhbPeDqu1kJjFyM2MdDq_WeP3BhtdsFfArWqgdI130_provenance.
- NP249832.RAHEYEuhbPeDqu1kJjFyM2MdDq_WeP3BhtdsFfArWqgdI130_assertion wasDerivedFrom befree-2016 NP249832.RAHEYEuhbPeDqu1kJjFyM2MdDq_WeP3BhtdsFfArWqgdI130_provenance.
- NP249832.RAHEYEuhbPeDqu1kJjFyM2MdDq_WeP3BhtdsFfArWqgdI130_assertion wasGeneratedBy ECO_0000203 NP249832.RAHEYEuhbPeDqu1kJjFyM2MdDq_WeP3BhtdsFfArWqgdI130_provenance.
- befree-2016 importedOn "2016-02-19" NP249832.RAHEYEuhbPeDqu1kJjFyM2MdDq_WeP3BhtdsFfArWqgdI130_provenance.