Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP528647.RAQj67PzyOo1Qgv1DILi-c_vKVf9nkyaA735j2wVoNLs4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP528647.RAQj67PzyOo1Qgv1DILi-c_vKVf9nkyaA735j2wVoNLs4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP528647.RAQj67PzyOo1Qgv1DILi-c_vKVf9nkyaA735j2wVoNLs4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP528647.RAQj67PzyOo1Qgv1DILi-c_vKVf9nkyaA735j2wVoNLs4130_provenance.
- NP528647.RAQj67PzyOo1Qgv1DILi-c_vKVf9nkyaA735j2wVoNLs4130_assertion description "[A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP528647.RAQj67PzyOo1Qgv1DILi-c_vKVf9nkyaA735j2wVoNLs4130_provenance.
- NP528647.RAQj67PzyOo1Qgv1DILi-c_vKVf9nkyaA735j2wVoNLs4130_assertion evidence source_evidence_literature NP528647.RAQj67PzyOo1Qgv1DILi-c_vKVf9nkyaA735j2wVoNLs4130_provenance.
- NP528647.RAQj67PzyOo1Qgv1DILi-c_vKVf9nkyaA735j2wVoNLs4130_assertion SIO_000772 16380904 NP528647.RAQj67PzyOo1Qgv1DILi-c_vKVf9nkyaA735j2wVoNLs4130_provenance.
- NP528647.RAQj67PzyOo1Qgv1DILi-c_vKVf9nkyaA735j2wVoNLs4130_assertion wasDerivedFrom befree-2016 NP528647.RAQj67PzyOo1Qgv1DILi-c_vKVf9nkyaA735j2wVoNLs4130_provenance.
- NP528647.RAQj67PzyOo1Qgv1DILi-c_vKVf9nkyaA735j2wVoNLs4130_assertion wasGeneratedBy ECO_0000203 NP528647.RAQj67PzyOo1Qgv1DILi-c_vKVf9nkyaA735j2wVoNLs4130_provenance.
- befree-2016 importedOn "2016-02-19" NP528647.RAQj67PzyOo1Qgv1DILi-c_vKVf9nkyaA735j2wVoNLs4130_provenance.