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- source_evidence_literature type ECO_0000212 NP744121.RAPdnDZ_00IGaDmzDQKmHfpQ4eeAuT0beS41FDUXpFBRU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP744121.RAPdnDZ_00IGaDmzDQKmHfpQ4eeAuT0beS41FDUXpFBRU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP744121.RAPdnDZ_00IGaDmzDQKmHfpQ4eeAuT0beS41FDUXpFBRU130_provenance.
- NP744121.RAPdnDZ_00IGaDmzDQKmHfpQ4eeAuT0beS41FDUXpFBRU130_assertion description "[Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP744121.RAPdnDZ_00IGaDmzDQKmHfpQ4eeAuT0beS41FDUXpFBRU130_provenance.
- NP744121.RAPdnDZ_00IGaDmzDQKmHfpQ4eeAuT0beS41FDUXpFBRU130_assertion evidence source_evidence_literature NP744121.RAPdnDZ_00IGaDmzDQKmHfpQ4eeAuT0beS41FDUXpFBRU130_provenance.
- NP744121.RAPdnDZ_00IGaDmzDQKmHfpQ4eeAuT0beS41FDUXpFBRU130_assertion SIO_000772 19508970 NP744121.RAPdnDZ_00IGaDmzDQKmHfpQ4eeAuT0beS41FDUXpFBRU130_provenance.
- NP744121.RAPdnDZ_00IGaDmzDQKmHfpQ4eeAuT0beS41FDUXpFBRU130_assertion wasDerivedFrom befree-2016 NP744121.RAPdnDZ_00IGaDmzDQKmHfpQ4eeAuT0beS41FDUXpFBRU130_provenance.
- NP744121.RAPdnDZ_00IGaDmzDQKmHfpQ4eeAuT0beS41FDUXpFBRU130_assertion wasGeneratedBy ECO_0000203 NP744121.RAPdnDZ_00IGaDmzDQKmHfpQ4eeAuT0beS41FDUXpFBRU130_provenance.
- befree-2016 importedOn "2016-02-19" NP744121.RAPdnDZ_00IGaDmzDQKmHfpQ4eeAuT0beS41FDUXpFBRU130_provenance.