Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP547627.RAQ_cmoVgCWu1e4cFoCnmBJnlbWtYvFKKJ09xfcQDXwck130_assertion> ?p ?o ?g. }
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- NP547627.RAQ_cmoVgCWu1e4cFoCnmBJnlbWtYvFKKJ09xfcQDXwck130_assertion type Assertion NP547627.RAQ_cmoVgCWu1e4cFoCnmBJnlbWtYvFKKJ09xfcQDXwck130_head.
- NP547627.RAQ_cmoVgCWu1e4cFoCnmBJnlbWtYvFKKJ09xfcQDXwck130_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." NP547627.RAQ_cmoVgCWu1e4cFoCnmBJnlbWtYvFKKJ09xfcQDXwck130_provenance.
- NP547627.RAQ_cmoVgCWu1e4cFoCnmBJnlbWtYvFKKJ09xfcQDXwck130_assertion evidence source_evidence_literature NP547627.RAQ_cmoVgCWu1e4cFoCnmBJnlbWtYvFKKJ09xfcQDXwck130_provenance.
- NP547627.RAQ_cmoVgCWu1e4cFoCnmBJnlbWtYvFKKJ09xfcQDXwck130_assertion SIO_000772 16650080 NP547627.RAQ_cmoVgCWu1e4cFoCnmBJnlbWtYvFKKJ09xfcQDXwck130_provenance.
- NP547627.RAQ_cmoVgCWu1e4cFoCnmBJnlbWtYvFKKJ09xfcQDXwck130_assertion wasDerivedFrom befree-2016 NP547627.RAQ_cmoVgCWu1e4cFoCnmBJnlbWtYvFKKJ09xfcQDXwck130_provenance.
- NP547627.RAQ_cmoVgCWu1e4cFoCnmBJnlbWtYvFKKJ09xfcQDXwck130_assertion wasGeneratedBy ECO_0000203 NP547627.RAQ_cmoVgCWu1e4cFoCnmBJnlbWtYvFKKJ09xfcQDXwck130_provenance.