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- source_evidence_literature type ECO_0000212 NP892379.RAENIbpaJ4Cj1mhbGqxrLDxDlbzo2e9DxRX5-3tuMKeaU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP892379.RAENIbpaJ4Cj1mhbGqxrLDxDlbzo2e9DxRX5-3tuMKeaU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP892379.RAENIbpaJ4Cj1mhbGqxrLDxDlbzo2e9DxRX5-3tuMKeaU130_provenance.
- NP892379.RAENIbpaJ4Cj1mhbGqxrLDxDlbzo2e9DxRX5-3tuMKeaU130_assertion description "[We identified a GNAS mutation in a patient with a severe form of Albright hereditary osteodystrophy and pseudohypoparathyroidism type 1a with phocomelia and performed PGD on embryos derived by in vitro fertilization in order to deliver an unaffected infant.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP892379.RAENIbpaJ4Cj1mhbGqxrLDxDlbzo2e9DxRX5-3tuMKeaU130_provenance.
- NP892379.RAENIbpaJ4Cj1mhbGqxrLDxDlbzo2e9DxRX5-3tuMKeaU130_assertion evidence source_evidence_literature NP892379.RAENIbpaJ4Cj1mhbGqxrLDxDlbzo2e9DxRX5-3tuMKeaU130_provenance.
- NP892379.RAENIbpaJ4Cj1mhbGqxrLDxDlbzo2e9DxRX5-3tuMKeaU130_assertion SIO_000772 21550946 NP892379.RAENIbpaJ4Cj1mhbGqxrLDxDlbzo2e9DxRX5-3tuMKeaU130_provenance.
- NP892379.RAENIbpaJ4Cj1mhbGqxrLDxDlbzo2e9DxRX5-3tuMKeaU130_assertion wasDerivedFrom befree-2016 NP892379.RAENIbpaJ4Cj1mhbGqxrLDxDlbzo2e9DxRX5-3tuMKeaU130_provenance.
- NP892379.RAENIbpaJ4Cj1mhbGqxrLDxDlbzo2e9DxRX5-3tuMKeaU130_assertion wasGeneratedBy ECO_0000203 NP892379.RAENIbpaJ4Cj1mhbGqxrLDxDlbzo2e9DxRX5-3tuMKeaU130_provenance.
- befree-2016 importedOn "2016-02-19" NP892379.RAENIbpaJ4Cj1mhbGqxrLDxDlbzo2e9DxRX5-3tuMKeaU130_provenance.