Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP279807.RANtNakkR9_6B-9rB1oz9shbkMt3AzysKyhIqMb9Z3dqI130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP279807.RANtNakkR9_6B-9rB1oz9shbkMt3AzysKyhIqMb9Z3dqI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP279807.RANtNakkR9_6B-9rB1oz9shbkMt3AzysKyhIqMb9Z3dqI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP279807.RANtNakkR9_6B-9rB1oz9shbkMt3AzysKyhIqMb9Z3dqI130_provenance.
- NP279807.RANtNakkR9_6B-9rB1oz9shbkMt3AzysKyhIqMb9Z3dqI130_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." NP279807.RANtNakkR9_6B-9rB1oz9shbkMt3AzysKyhIqMb9Z3dqI130_provenance.
- NP279807.RANtNakkR9_6B-9rB1oz9shbkMt3AzysKyhIqMb9Z3dqI130_assertion evidence source_evidence_literature NP279807.RANtNakkR9_6B-9rB1oz9shbkMt3AzysKyhIqMb9Z3dqI130_provenance.
- NP279807.RANtNakkR9_6B-9rB1oz9shbkMt3AzysKyhIqMb9Z3dqI130_assertion SIO_000772 10745044 NP279807.RANtNakkR9_6B-9rB1oz9shbkMt3AzysKyhIqMb9Z3dqI130_provenance.
- NP279807.RANtNakkR9_6B-9rB1oz9shbkMt3AzysKyhIqMb9Z3dqI130_assertion wasDerivedFrom befree-2016 NP279807.RANtNakkR9_6B-9rB1oz9shbkMt3AzysKyhIqMb9Z3dqI130_provenance.
- NP279807.RANtNakkR9_6B-9rB1oz9shbkMt3AzysKyhIqMb9Z3dqI130_assertion wasGeneratedBy ECO_0000203 NP279807.RANtNakkR9_6B-9rB1oz9shbkMt3AzysKyhIqMb9Z3dqI130_provenance.
- befree-2016 importedOn "2016-02-19" NP279807.RANtNakkR9_6B-9rB1oz9shbkMt3AzysKyhIqMb9Z3dqI130_provenance.