Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP383313.RAtuqBDcrZqigROzUnZTbUQm0Vp8U31DMQVRfTfPpCQ9o130_assertion> ?p ?o ?g. }
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- NP383313.RAtuqBDcrZqigROzUnZTbUQm0Vp8U31DMQVRfTfPpCQ9o130_assertion type Assertion NP383313.RAtuqBDcrZqigROzUnZTbUQm0Vp8U31DMQVRfTfPpCQ9o130_head.
- NP383313.RAtuqBDcrZqigROzUnZTbUQm0Vp8U31DMQVRfTfPpCQ9o130_assertion wasGeneratedBy ECO_0000203 NP383313.RAtuqBDcrZqigROzUnZTbUQm0Vp8U31DMQVRfTfPpCQ9o130_provenance.
- NP383313.RAtuqBDcrZqigROzUnZTbUQm0Vp8U31DMQVRfTfPpCQ9o130_assertion wasDerivedFrom befree-2016 NP383313.RAtuqBDcrZqigROzUnZTbUQm0Vp8U31DMQVRfTfPpCQ9o130_provenance.
- NP383313.RAtuqBDcrZqigROzUnZTbUQm0Vp8U31DMQVRfTfPpCQ9o130_assertion SIO_000772 12577200 NP383313.RAtuqBDcrZqigROzUnZTbUQm0Vp8U31DMQVRfTfPpCQ9o130_provenance.
- NP383313.RAtuqBDcrZqigROzUnZTbUQm0Vp8U31DMQVRfTfPpCQ9o130_assertion evidence source_evidence_literature NP383313.RAtuqBDcrZqigROzUnZTbUQm0Vp8U31DMQVRfTfPpCQ9o130_provenance.
- NP383313.RAtuqBDcrZqigROzUnZTbUQm0Vp8U31DMQVRfTfPpCQ9o130_assertion description "[We recently identified a mutation in the I-kappa B kinase associated protein (IKBKAP) gene as the major cause of familial dysautonomia (FD), a recessive sensory and autonomic neuropathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP383313.RAtuqBDcrZqigROzUnZTbUQm0Vp8U31DMQVRfTfPpCQ9o130_provenance.