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- source_evidence_literature type ECO_0000212 NP599053.RAQI2gOpC5hys-5nyLHL9bsFXXYGcJxZZj44bwkskUldc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP599053.RAQI2gOpC5hys-5nyLHL9bsFXXYGcJxZZj44bwkskUldc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP599053.RAQI2gOpC5hys-5nyLHL9bsFXXYGcJxZZj44bwkskUldc130_provenance.
- befree-20150227 importedOn "2015-02-27" NP599053.RAQI2gOpC5hys-5nyLHL9bsFXXYGcJxZZj44bwkskUldc130_provenance.
- NP599053.RAQI2gOpC5hys-5nyLHL9bsFXXYGcJxZZj44bwkskUldc130_assertion wasGeneratedBy ECO_0000203 NP599053.RAQI2gOpC5hys-5nyLHL9bsFXXYGcJxZZj44bwkskUldc130_provenance.
- NP599053.RAQI2gOpC5hys-5nyLHL9bsFXXYGcJxZZj44bwkskUldc130_assertion wasDerivedFrom befree-20150227 NP599053.RAQI2gOpC5hys-5nyLHL9bsFXXYGcJxZZj44bwkskUldc130_provenance.
- NP599053.RAQI2gOpC5hys-5nyLHL9bsFXXYGcJxZZj44bwkskUldc130_assertion SIO_000772 8826452 NP599053.RAQI2gOpC5hys-5nyLHL9bsFXXYGcJxZZj44bwkskUldc130_provenance.
- NP599053.RAQI2gOpC5hys-5nyLHL9bsFXXYGcJxZZj44bwkskUldc130_assertion evidence source_evidence_literature NP599053.RAQI2gOpC5hys-5nyLHL9bsFXXYGcJxZZj44bwkskUldc130_provenance.
- NP599053.RAQI2gOpC5hys-5nyLHL9bsFXXYGcJxZZj44bwkskUldc130_assertion description "[Mutations in the gene encoding the neuronal cell adhesion molecule L1 are responsible for several syndromes with clinical overlap, including X-linked hydrocephalus (XLH, HSAS), MASA (mental retardation, aphasias, shuffling gait, adducted thumbs) syndrome, complicated X-linked spastic paraplegia (SP 1), X-linked mental retardation-clasped thumb (MR-CT) syndrome, and some forms of X-linked agenesis of the corpus callosum (ACC).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP599053.RAQI2gOpC5hys-5nyLHL9bsFXXYGcJxZZj44bwkskUldc130_provenance.