Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1358383.RApVNVKvr5QSVvXH7FSGJOdr1_Ykdhq05xMhFgRHf3Ooc130_assertion> ?p ?o ?g. }
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- NP1358383.RApVNVKvr5QSVvXH7FSGJOdr1_Ykdhq05xMhFgRHf3Ooc130_assertion type Assertion NP1358383.RApVNVKvr5QSVvXH7FSGJOdr1_Ykdhq05xMhFgRHf3Ooc130_head.
- NP1358383.RApVNVKvr5QSVvXH7FSGJOdr1_Ykdhq05xMhFgRHf3Ooc130_assertion wasGeneratedBy ECO_0000203 NP1358383.RApVNVKvr5QSVvXH7FSGJOdr1_Ykdhq05xMhFgRHf3Ooc130_provenance.
- NP1358383.RApVNVKvr5QSVvXH7FSGJOdr1_Ykdhq05xMhFgRHf3Ooc130_assertion wasDerivedFrom befree-2016 NP1358383.RApVNVKvr5QSVvXH7FSGJOdr1_Ykdhq05xMhFgRHf3Ooc130_provenance.
- NP1358383.RApVNVKvr5QSVvXH7FSGJOdr1_Ykdhq05xMhFgRHf3Ooc130_assertion SIO_000772 8826452 NP1358383.RApVNVKvr5QSVvXH7FSGJOdr1_Ykdhq05xMhFgRHf3Ooc130_provenance.
- NP1358383.RApVNVKvr5QSVvXH7FSGJOdr1_Ykdhq05xMhFgRHf3Ooc130_assertion evidence source_evidence_literature NP1358383.RApVNVKvr5QSVvXH7FSGJOdr1_Ykdhq05xMhFgRHf3Ooc130_provenance.
- NP1358383.RApVNVKvr5QSVvXH7FSGJOdr1_Ykdhq05xMhFgRHf3Ooc130_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." NP1358383.RApVNVKvr5QSVvXH7FSGJOdr1_Ykdhq05xMhFgRHf3Ooc130_provenance.