Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP240179.RAvYEDVSx-pA76f6VRqjfb0icdjMDgT6Rm-E46TBHofBU130_assertion> ?p ?o ?g. }
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- NP240179.RAvYEDVSx-pA76f6VRqjfb0icdjMDgT6Rm-E46TBHofBU130_assertion type Assertion NP240179.RAvYEDVSx-pA76f6VRqjfb0icdjMDgT6Rm-E46TBHofBU130_head.
- NP240179.RAvYEDVSx-pA76f6VRqjfb0icdjMDgT6Rm-E46TBHofBU130_assertion description "[A novel mutation in exon 8 of the PSEN1 gene (V261L) was associated with early-onset autosomal dominant Alzheimer's disease & spastic paraparesis in 3 family members.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP240179.RAvYEDVSx-pA76f6VRqjfb0icdjMDgT6Rm-E46TBHofBU130_provenance.
- NP240179.RAvYEDVSx-pA76f6VRqjfb0icdjMDgT6Rm-E46TBHofBU130_assertion evidence source_evidence_literature NP240179.RAvYEDVSx-pA76f6VRqjfb0icdjMDgT6Rm-E46TBHofBU130_provenance.
- NP240179.RAvYEDVSx-pA76f6VRqjfb0icdjMDgT6Rm-E46TBHofBU130_assertion SIO_000772 18637955 NP240179.RAvYEDVSx-pA76f6VRqjfb0icdjMDgT6Rm-E46TBHofBU130_provenance.
- NP240179.RAvYEDVSx-pA76f6VRqjfb0icdjMDgT6Rm-E46TBHofBU130_assertion wasDerivedFrom lhgdn-20090331 NP240179.RAvYEDVSx-pA76f6VRqjfb0icdjMDgT6Rm-E46TBHofBU130_provenance.
- NP240179.RAvYEDVSx-pA76f6VRqjfb0icdjMDgT6Rm-E46TBHofBU130_assertion wasGeneratedBy ECO_0000203 NP240179.RAvYEDVSx-pA76f6VRqjfb0icdjMDgT6Rm-E46TBHofBU130_provenance.