Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP130841.RAR028UDO1UiiPVLPBeQLZbl71esKICn1B_mPtG6tMe-E130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP130841.RAR028UDO1UiiPVLPBeQLZbl71esKICn1B_mPtG6tMe-E130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP130841.RAR028UDO1UiiPVLPBeQLZbl71esKICn1B_mPtG6tMe-E130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP130841.RAR028UDO1UiiPVLPBeQLZbl71esKICn1B_mPtG6tMe-E130_provenance.
- NP130841.RAR028UDO1UiiPVLPBeQLZbl71esKICn1B_mPtG6tMe-E130_assertion description "[Direct sequence analysis of exon 4 of her CASR gene identified a heterozygous R227Q mutation in the extracellular domain of the receptor in familial (benign) hypocalciuric hypercalcemia or neonatal yperparathyroidism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP130841.RAR028UDO1UiiPVLPBeQLZbl71esKICn1B_mPtG6tMe-E130_provenance.
- NP130841.RAR028UDO1UiiPVLPBeQLZbl71esKICn1B_mPtG6tMe-E130_assertion evidence source_evidence_literature NP130841.RAR028UDO1UiiPVLPBeQLZbl71esKICn1B_mPtG6tMe-E130_provenance.
- NP130841.RAR028UDO1UiiPVLPBeQLZbl71esKICn1B_mPtG6tMe-E130_assertion SIO_000772 15572418 NP130841.RAR028UDO1UiiPVLPBeQLZbl71esKICn1B_mPtG6tMe-E130_provenance.
- NP130841.RAR028UDO1UiiPVLPBeQLZbl71esKICn1B_mPtG6tMe-E130_assertion wasDerivedFrom lhgdn-20090331 NP130841.RAR028UDO1UiiPVLPBeQLZbl71esKICn1B_mPtG6tMe-E130_provenance.
- NP130841.RAR028UDO1UiiPVLPBeQLZbl71esKICn1B_mPtG6tMe-E130_assertion wasGeneratedBy ECO_0000203 NP130841.RAR028UDO1UiiPVLPBeQLZbl71esKICn1B_mPtG6tMe-E130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP130841.RAR028UDO1UiiPVLPBeQLZbl71esKICn1B_mPtG6tMe-E130_provenance.