Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP346058.RAFUmq8bpUiMr1YW9zxNxmxNUTBfFC9RA0zHs7XE-VQmw130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP346058.RAFUmq8bpUiMr1YW9zxNxmxNUTBfFC9RA0zHs7XE-VQmw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP346058.RAFUmq8bpUiMr1YW9zxNxmxNUTBfFC9RA0zHs7XE-VQmw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP346058.RAFUmq8bpUiMr1YW9zxNxmxNUTBfFC9RA0zHs7XE-VQmw130_provenance.
- befree-2016 importedOn "2016-02-19" NP346058.RAFUmq8bpUiMr1YW9zxNxmxNUTBfFC9RA0zHs7XE-VQmw130_provenance.
- NP346058.RAFUmq8bpUiMr1YW9zxNxmxNUTBfFC9RA0zHs7XE-VQmw130_assertion wasGeneratedBy ECO_0000203 NP346058.RAFUmq8bpUiMr1YW9zxNxmxNUTBfFC9RA0zHs7XE-VQmw130_provenance.
- NP346058.RAFUmq8bpUiMr1YW9zxNxmxNUTBfFC9RA0zHs7XE-VQmw130_assertion wasDerivedFrom befree-2016 NP346058.RAFUmq8bpUiMr1YW9zxNxmxNUTBfFC9RA0zHs7XE-VQmw130_provenance.
- NP346058.RAFUmq8bpUiMr1YW9zxNxmxNUTBfFC9RA0zHs7XE-VQmw130_assertion SIO_000772 11857550 NP346058.RAFUmq8bpUiMr1YW9zxNxmxNUTBfFC9RA0zHs7XE-VQmw130_provenance.
- NP346058.RAFUmq8bpUiMr1YW9zxNxmxNUTBfFC9RA0zHs7XE-VQmw130_assertion evidence source_evidence_literature NP346058.RAFUmq8bpUiMr1YW9zxNxmxNUTBfFC9RA0zHs7XE-VQmw130_provenance.
- NP346058.RAFUmq8bpUiMr1YW9zxNxmxNUTBfFC9RA0zHs7XE-VQmw130_assertion description "[Congenital hydrocephalus associated with aqueductal stenosis and/or agenesis of the corpus callosum has been described in newborn males with mutations in L1CAM, a gene that encodes a neural cell adhesion molecule.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP346058.RAFUmq8bpUiMr1YW9zxNxmxNUTBfFC9RA0zHs7XE-VQmw130_provenance.