Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP370617.RALNdo5X1HMOsGjCU1GtJl8UslcG9s7JHxxjpv_ORzOQc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP370617.RALNdo5X1HMOsGjCU1GtJl8UslcG9s7JHxxjpv_ORzOQc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP370617.RALNdo5X1HMOsGjCU1GtJl8UslcG9s7JHxxjpv_ORzOQc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP370617.RALNdo5X1HMOsGjCU1GtJl8UslcG9s7JHxxjpv_ORzOQc130_provenance.
- befree-2016 importedOn "2016-02-19" NP370617.RALNdo5X1HMOsGjCU1GtJl8UslcG9s7JHxxjpv_ORzOQc130_provenance.
- NP370617.RALNdo5X1HMOsGjCU1GtJl8UslcG9s7JHxxjpv_ORzOQc130_assertion wasGeneratedBy ECO_0000203 NP370617.RALNdo5X1HMOsGjCU1GtJl8UslcG9s7JHxxjpv_ORzOQc130_provenance.
- NP370617.RALNdo5X1HMOsGjCU1GtJl8UslcG9s7JHxxjpv_ORzOQc130_assertion wasDerivedFrom befree-2016 NP370617.RALNdo5X1HMOsGjCU1GtJl8UslcG9s7JHxxjpv_ORzOQc130_provenance.
- NP370617.RALNdo5X1HMOsGjCU1GtJl8UslcG9s7JHxxjpv_ORzOQc130_assertion SIO_000772 12374764 NP370617.RALNdo5X1HMOsGjCU1GtJl8UslcG9s7JHxxjpv_ORzOQc130_provenance.
- NP370617.RALNdo5X1HMOsGjCU1GtJl8UslcG9s7JHxxjpv_ORzOQc130_assertion evidence source_evidence_literature NP370617.RALNdo5X1HMOsGjCU1GtJl8UslcG9s7JHxxjpv_ORzOQc130_provenance.
- NP370617.RALNdo5X1HMOsGjCU1GtJl8UslcG9s7JHxxjpv_ORzOQc130_assertion description "[Pseudohypoparathyroidism Ib (PHPIb), characterized by parathyroid hormone-resistant hypocalcemia and hyperphosphatemia, is caused by a deregulation in the imprinting status of the GNAS1 cluster, comprising exons XL, NESP55 and 1A and the coding exons of Gsalpha.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP370617.RALNdo5X1HMOsGjCU1GtJl8UslcG9s7JHxxjpv_ORzOQc130_provenance.