Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP44184.RAPrhDNBK0G9NCyoN7xoYkgcMGdWxtCFAVLEf3--PFQE0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP44184.RAPrhDNBK0G9NCyoN7xoYkgcMGdWxtCFAVLEf3--PFQE0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP44184.RAPrhDNBK0G9NCyoN7xoYkgcMGdWxtCFAVLEf3--PFQE0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP44184.RAPrhDNBK0G9NCyoN7xoYkgcMGdWxtCFAVLEf3--PFQE0130_provenance.
- NP44184.RAPrhDNBK0G9NCyoN7xoYkgcMGdWxtCFAVLEf3--PFQE0130_assertion description "[ A SNP in the 5'-untranslated region of FBN1 (SNP-1, C allele) was strongly associated with SSc in the Choctaw. Furthermore, this polymorphism is present on 2 unique FBN1 haplotypes found only in Choctaw SSc patients. The same 2 haplotypes demonstrate associations with SSc in the Japanese. These data extend the earlier microsatellite studies and are consistent with the hypothesis that FBN1 or a nearby gene on chromosome 15q is involved in SSc susceptibility in the Choctaw and the Japanese.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP44184.RAPrhDNBK0G9NCyoN7xoYkgcMGdWxtCFAVLEf3--PFQE0130_provenance.
- NP44184.RAPrhDNBK0G9NCyoN7xoYkgcMGdWxtCFAVLEf3--PFQE0130_assertion evidence source_evidence_literature NP44184.RAPrhDNBK0G9NCyoN7xoYkgcMGdWxtCFAVLEf3--PFQE0130_provenance.
- NP44184.RAPrhDNBK0G9NCyoN7xoYkgcMGdWxtCFAVLEf3--PFQE0130_assertion SIO_000772 11315929 NP44184.RAPrhDNBK0G9NCyoN7xoYkgcMGdWxtCFAVLEf3--PFQE0130_provenance.
- NP44184.RAPrhDNBK0G9NCyoN7xoYkgcMGdWxtCFAVLEf3--PFQE0130_assertion wasDerivedFrom gad-20130706 NP44184.RAPrhDNBK0G9NCyoN7xoYkgcMGdWxtCFAVLEf3--PFQE0130_provenance.
- NP44184.RAPrhDNBK0G9NCyoN7xoYkgcMGdWxtCFAVLEf3--PFQE0130_assertion wasGeneratedBy ECO_0000203 NP44184.RAPrhDNBK0G9NCyoN7xoYkgcMGdWxtCFAVLEf3--PFQE0130_provenance.
- gad-20130706 importedOn "2013-07-06" NP44184.RAPrhDNBK0G9NCyoN7xoYkgcMGdWxtCFAVLEf3--PFQE0130_provenance.