Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP196635.RAlxtBEsmFc4Inz7Jkjpf_dD4ZWddfL5jRLe9iEcGGPr0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP196635.RAlxtBEsmFc4Inz7Jkjpf_dD4ZWddfL5jRLe9iEcGGPr0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP196635.RAlxtBEsmFc4Inz7Jkjpf_dD4ZWddfL5jRLe9iEcGGPr0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP196635.RAlxtBEsmFc4Inz7Jkjpf_dD4ZWddfL5jRLe9iEcGGPr0130_provenance.
- NP196635.RAlxtBEsmFc4Inz7Jkjpf_dD4ZWddfL5jRLe9iEcGGPr0130_assertion description "[A heterozygous nonsense mutation (Tyr145Stop) corresponding to a T-to-A transition at nucleotide position 435 in exon 3 of the MPZ gene was identified in Charcot-Marie-Tooth disease type 1B patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP196635.RAlxtBEsmFc4Inz7Jkjpf_dD4ZWddfL5jRLe9iEcGGPr0130_provenance.
- NP196635.RAlxtBEsmFc4Inz7Jkjpf_dD4ZWddfL5jRLe9iEcGGPr0130_assertion evidence source_evidence_literature NP196635.RAlxtBEsmFc4Inz7Jkjpf_dD4ZWddfL5jRLe9iEcGGPr0130_provenance.
- NP196635.RAlxtBEsmFc4Inz7Jkjpf_dD4ZWddfL5jRLe9iEcGGPr0130_assertion SIO_000772 18663734 NP196635.RAlxtBEsmFc4Inz7Jkjpf_dD4ZWddfL5jRLe9iEcGGPr0130_provenance.
- NP196635.RAlxtBEsmFc4Inz7Jkjpf_dD4ZWddfL5jRLe9iEcGGPr0130_assertion wasDerivedFrom lhgdn-20090331 NP196635.RAlxtBEsmFc4Inz7Jkjpf_dD4ZWddfL5jRLe9iEcGGPr0130_provenance.
- NP196635.RAlxtBEsmFc4Inz7Jkjpf_dD4ZWddfL5jRLe9iEcGGPr0130_assertion wasGeneratedBy ECO_0000203 NP196635.RAlxtBEsmFc4Inz7Jkjpf_dD4ZWddfL5jRLe9iEcGGPr0130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP196635.RAlxtBEsmFc4Inz7Jkjpf_dD4ZWddfL5jRLe9iEcGGPr0130_provenance.