Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP900282.RAIYNGsrHK6KdXbOKDJ4rflP_iNwNcI6yvN6Z6MLYzuKw130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP900282.RAIYNGsrHK6KdXbOKDJ4rflP_iNwNcI6yvN6Z6MLYzuKw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP900282.RAIYNGsrHK6KdXbOKDJ4rflP_iNwNcI6yvN6Z6MLYzuKw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP900282.RAIYNGsrHK6KdXbOKDJ4rflP_iNwNcI6yvN6Z6MLYzuKw130_provenance.
- NP900282.RAIYNGsrHK6KdXbOKDJ4rflP_iNwNcI6yvN6Z6MLYzuKw130_assertion description "[Achondrogenesis II-hypochondrogenesis and severe spondyloepiphyseal dysplasia congenita (SEDC) are lethal forms of dwarfism caused by dominant mutations in the type II collagen gene (COL2A1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP900282.RAIYNGsrHK6KdXbOKDJ4rflP_iNwNcI6yvN6Z6MLYzuKw130_provenance.
- NP900282.RAIYNGsrHK6KdXbOKDJ4rflP_iNwNcI6yvN6Z6MLYzuKw130_assertion evidence source_evidence_literature NP900282.RAIYNGsrHK6KdXbOKDJ4rflP_iNwNcI6yvN6Z6MLYzuKw130_provenance.
- NP900282.RAIYNGsrHK6KdXbOKDJ4rflP_iNwNcI6yvN6Z6MLYzuKw130_assertion SIO_000772 10745044 NP900282.RAIYNGsrHK6KdXbOKDJ4rflP_iNwNcI6yvN6Z6MLYzuKw130_provenance.
- NP900282.RAIYNGsrHK6KdXbOKDJ4rflP_iNwNcI6yvN6Z6MLYzuKw130_assertion wasDerivedFrom befree-20140225 NP900282.RAIYNGsrHK6KdXbOKDJ4rflP_iNwNcI6yvN6Z6MLYzuKw130_provenance.
- NP900282.RAIYNGsrHK6KdXbOKDJ4rflP_iNwNcI6yvN6Z6MLYzuKw130_assertion wasGeneratedBy ECO_0000203 NP900282.RAIYNGsrHK6KdXbOKDJ4rflP_iNwNcI6yvN6Z6MLYzuKw130_provenance.
- befree-20140225 importedOn "2014-02-25" NP900282.RAIYNGsrHK6KdXbOKDJ4rflP_iNwNcI6yvN6Z6MLYzuKw130_provenance.