Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1311956.RAOTOa0CXCKcEOc0_WXygqK0gPiI6Z7yqU4oajqASPX8U130_assertion> ?p ?o ?g. }
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- NP1311956.RAOTOa0CXCKcEOc0_WXygqK0gPiI6Z7yqU4oajqASPX8U130_assertion type Assertion NP1311956.RAOTOa0CXCKcEOc0_WXygqK0gPiI6Z7yqU4oajqASPX8U130_head.
- NP1311956.RAOTOa0CXCKcEOc0_WXygqK0gPiI6Z7yqU4oajqASPX8U130_assertion description "[A missense mutation (Asn 217 to Ser), which may interfere with calcium binding, was also detected in exon VIII in a patient with type III protein S deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1311956.RAOTOa0CXCKcEOc0_WXygqK0gPiI6Z7yqU4oajqASPX8U130_provenance.
- NP1311956.RAOTOa0CXCKcEOc0_WXygqK0gPiI6Z7yqU4oajqASPX8U130_assertion evidence source_evidence_literature NP1311956.RAOTOa0CXCKcEOc0_WXygqK0gPiI6Z7yqU4oajqASPX8U130_provenance.
- NP1311956.RAOTOa0CXCKcEOc0_WXygqK0gPiI6Z7yqU4oajqASPX8U130_assertion SIO_000772 7545463 NP1311956.RAOTOa0CXCKcEOc0_WXygqK0gPiI6Z7yqU4oajqASPX8U130_provenance.
- NP1311956.RAOTOa0CXCKcEOc0_WXygqK0gPiI6Z7yqU4oajqASPX8U130_assertion wasDerivedFrom befree-2016 NP1311956.RAOTOa0CXCKcEOc0_WXygqK0gPiI6Z7yqU4oajqASPX8U130_provenance.
- NP1311956.RAOTOa0CXCKcEOc0_WXygqK0gPiI6Z7yqU4oajqASPX8U130_assertion wasGeneratedBy ECO_0000203 NP1311956.RAOTOa0CXCKcEOc0_WXygqK0gPiI6Z7yqU4oajqASPX8U130_provenance.