Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP904282.RARebyZNpT-LezbMb4_jd-oTPFLiKNn6zYXS03dIbdxDw130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP904282.RARebyZNpT-LezbMb4_jd-oTPFLiKNn6zYXS03dIbdxDw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP904282.RARebyZNpT-LezbMb4_jd-oTPFLiKNn6zYXS03dIbdxDw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP904282.RARebyZNpT-LezbMb4_jd-oTPFLiKNn6zYXS03dIbdxDw130_provenance.
- NP904282.RARebyZNpT-LezbMb4_jd-oTPFLiKNn6zYXS03dIbdxDw130_assertion description "[In this study, a young boy with afibrinogenemia was found to be a compound heterozygote for 2 mutations in FGB: an N-terminal nonsense mutation W47X (exon 2) and a missense mutation (G444S, exon 8).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP904282.RARebyZNpT-LezbMb4_jd-oTPFLiKNn6zYXS03dIbdxDw130_provenance.
- NP904282.RARebyZNpT-LezbMb4_jd-oTPFLiKNn6zYXS03dIbdxDw130_assertion evidence source_evidence_literature NP904282.RARebyZNpT-LezbMb4_jd-oTPFLiKNn6zYXS03dIbdxDw130_provenance.
- NP904282.RARebyZNpT-LezbMb4_jd-oTPFLiKNn6zYXS03dIbdxDw130_assertion SIO_000772 12893758 NP904282.RARebyZNpT-LezbMb4_jd-oTPFLiKNn6zYXS03dIbdxDw130_provenance.
- NP904282.RARebyZNpT-LezbMb4_jd-oTPFLiKNn6zYXS03dIbdxDw130_assertion wasDerivedFrom befree-20140225 NP904282.RARebyZNpT-LezbMb4_jd-oTPFLiKNn6zYXS03dIbdxDw130_provenance.
- NP904282.RARebyZNpT-LezbMb4_jd-oTPFLiKNn6zYXS03dIbdxDw130_assertion wasGeneratedBy ECO_0000203 NP904282.RARebyZNpT-LezbMb4_jd-oTPFLiKNn6zYXS03dIbdxDw130_provenance.
- befree-20140225 importedOn "2014-02-25" NP904282.RARebyZNpT-LezbMb4_jd-oTPFLiKNn6zYXS03dIbdxDw130_provenance.