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- source_evidence_literature type ECO_0000212 NP1046692.RAbzaPtQx_r7Ilj3508NGXmQKGtbaaz2HwawSDDPLVnJY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1046692.RAbzaPtQx_r7Ilj3508NGXmQKGtbaaz2HwawSDDPLVnJY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1046692.RAbzaPtQx_r7Ilj3508NGXmQKGtbaaz2HwawSDDPLVnJY130_provenance.
- NP1046692.RAbzaPtQx_r7Ilj3508NGXmQKGtbaaz2HwawSDDPLVnJY130_assertion description "[In addition, the p.P252R mutation in FGFR1 was detected in 1 PS patient with unilateral coronal craniosynostosis expanding the phenotypic spectrum of PS with this particular mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1046692.RAbzaPtQx_r7Ilj3508NGXmQKGtbaaz2HwawSDDPLVnJY130_provenance.
- NP1046692.RAbzaPtQx_r7Ilj3508NGXmQKGtbaaz2HwawSDDPLVnJY130_assertion evidence source_evidence_literature NP1046692.RAbzaPtQx_r7Ilj3508NGXmQKGtbaaz2HwawSDDPLVnJY130_provenance.
- NP1046692.RAbzaPtQx_r7Ilj3508NGXmQKGtbaaz2HwawSDDPLVnJY130_assertion SIO_000772 23348274 NP1046692.RAbzaPtQx_r7Ilj3508NGXmQKGtbaaz2HwawSDDPLVnJY130_provenance.
- NP1046692.RAbzaPtQx_r7Ilj3508NGXmQKGtbaaz2HwawSDDPLVnJY130_assertion wasDerivedFrom befree-2016 NP1046692.RAbzaPtQx_r7Ilj3508NGXmQKGtbaaz2HwawSDDPLVnJY130_provenance.
- NP1046692.RAbzaPtQx_r7Ilj3508NGXmQKGtbaaz2HwawSDDPLVnJY130_assertion wasGeneratedBy ECO_0000203 NP1046692.RAbzaPtQx_r7Ilj3508NGXmQKGtbaaz2HwawSDDPLVnJY130_provenance.
- befree-2016 importedOn "2016-02-19" NP1046692.RAbzaPtQx_r7Ilj3508NGXmQKGtbaaz2HwawSDDPLVnJY130_provenance.