Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP547628.RAK_1JRbeKCTrvbgmOTgJ38zWmQqMNjaDYJ3XJtpU8yXk130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP547628.RAK_1JRbeKCTrvbgmOTgJ38zWmQqMNjaDYJ3XJtpU8yXk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP547628.RAK_1JRbeKCTrvbgmOTgJ38zWmQqMNjaDYJ3XJtpU8yXk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP547628.RAK_1JRbeKCTrvbgmOTgJ38zWmQqMNjaDYJ3XJtpU8yXk130_provenance.
- NP547628.RAK_1JRbeKCTrvbgmOTgJ38zWmQqMNjaDYJ3XJtpU8yXk130_assertion description "[Mutations in the L1CAM gene cause neurological abnormalities of variable severity, including congenital hydrocephalus, agenesis of the corpus callosum, spastic paraplegia, bilaterally adducted thumbs, aphasia, and mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP547628.RAK_1JRbeKCTrvbgmOTgJ38zWmQqMNjaDYJ3XJtpU8yXk130_provenance.
- NP547628.RAK_1JRbeKCTrvbgmOTgJ38zWmQqMNjaDYJ3XJtpU8yXk130_assertion evidence source_evidence_literature NP547628.RAK_1JRbeKCTrvbgmOTgJ38zWmQqMNjaDYJ3XJtpU8yXk130_provenance.
- NP547628.RAK_1JRbeKCTrvbgmOTgJ38zWmQqMNjaDYJ3XJtpU8yXk130_assertion SIO_000772 16650080 NP547628.RAK_1JRbeKCTrvbgmOTgJ38zWmQqMNjaDYJ3XJtpU8yXk130_provenance.
- NP547628.RAK_1JRbeKCTrvbgmOTgJ38zWmQqMNjaDYJ3XJtpU8yXk130_assertion wasDerivedFrom befree-2016 NP547628.RAK_1JRbeKCTrvbgmOTgJ38zWmQqMNjaDYJ3XJtpU8yXk130_provenance.
- NP547628.RAK_1JRbeKCTrvbgmOTgJ38zWmQqMNjaDYJ3XJtpU8yXk130_assertion wasGeneratedBy ECO_0000203 NP547628.RAK_1JRbeKCTrvbgmOTgJ38zWmQqMNjaDYJ3XJtpU8yXk130_provenance.
- befree-2016 importedOn "2016-02-19" NP547628.RAK_1JRbeKCTrvbgmOTgJ38zWmQqMNjaDYJ3XJtpU8yXk130_provenance.