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- source_evidence_literature type ECO_0000212 NP688195.RA7scTA0PSJSLDQ5RHsjSp4jc1QSLKaAaRYhMsu9Ez3J8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP688195.RA7scTA0PSJSLDQ5RHsjSp4jc1QSLKaAaRYhMsu9Ez3J8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP688195.RA7scTA0PSJSLDQ5RHsjSp4jc1QSLKaAaRYhMsu9Ez3J8130_provenance.
- NP688195.RA7scTA0PSJSLDQ5RHsjSp4jc1QSLKaAaRYhMsu9Ez3J8130_assertion description "[An earlier screening for CYP1B1 in a clinically well-characterized PCG cohort (n = 301) revealed cases that were either homozygous (n = 73), compound heterozygous (n = 18), or heterozygous (n = 41) for the mutant allele, whereas the remaining (n = 169) did not harbor any mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP688195.RA7scTA0PSJSLDQ5RHsjSp4jc1QSLKaAaRYhMsu9Ez3J8130_provenance.
- NP688195.RA7scTA0PSJSLDQ5RHsjSp4jc1QSLKaAaRYhMsu9Ez3J8130_assertion evidence source_evidence_literature NP688195.RA7scTA0PSJSLDQ5RHsjSp4jc1QSLKaAaRYhMsu9Ez3J8130_provenance.
- NP688195.RA7scTA0PSJSLDQ5RHsjSp4jc1QSLKaAaRYhMsu9Ez3J8130_assertion SIO_000772 18708620 NP688195.RA7scTA0PSJSLDQ5RHsjSp4jc1QSLKaAaRYhMsu9Ez3J8130_provenance.
- NP688195.RA7scTA0PSJSLDQ5RHsjSp4jc1QSLKaAaRYhMsu9Ez3J8130_assertion wasDerivedFrom befree-2016 NP688195.RA7scTA0PSJSLDQ5RHsjSp4jc1QSLKaAaRYhMsu9Ez3J8130_provenance.
- NP688195.RA7scTA0PSJSLDQ5RHsjSp4jc1QSLKaAaRYhMsu9Ez3J8130_assertion wasGeneratedBy ECO_0000203 NP688195.RA7scTA0PSJSLDQ5RHsjSp4jc1QSLKaAaRYhMsu9Ez3J8130_provenance.
- befree-2016 importedOn "2016-02-19" NP688195.RA7scTA0PSJSLDQ5RHsjSp4jc1QSLKaAaRYhMsu9Ez3J8130_provenance.