Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP744121.RAPdnDZ_00IGaDmzDQKmHfpQ4eeAuT0beS41FDUXpFBRU130_assertion> ?p ?o ?g. }
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- NP744121.RAPdnDZ_00IGaDmzDQKmHfpQ4eeAuT0beS41FDUXpFBRU130_assertion type Assertion NP744121.RAPdnDZ_00IGaDmzDQKmHfpQ4eeAuT0beS41FDUXpFBRU130_head.
- 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.