Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP286834.RA6M9bgHEB1marw6Z2h9Kyh7hbXbe1diHrtM9Q0oD5wek130_assertion> ?p ?o ?g. }
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- NP286834.RA6M9bgHEB1marw6Z2h9Kyh7hbXbe1diHrtM9Q0oD5wek130_assertion type Assertion NP286834.RA6M9bgHEB1marw6Z2h9Kyh7hbXbe1diHrtM9Q0oD5wek130_head.
- NP286834.RA6M9bgHEB1marw6Z2h9Kyh7hbXbe1diHrtM9Q0oD5wek130_assertion wasGeneratedBy ECO_0000203 NP286834.RA6M9bgHEB1marw6Z2h9Kyh7hbXbe1diHrtM9Q0oD5wek130_provenance.
- NP286834.RA6M9bgHEB1marw6Z2h9Kyh7hbXbe1diHrtM9Q0oD5wek130_assertion wasDerivedFrom befree-20140225 NP286834.RA6M9bgHEB1marw6Z2h9Kyh7hbXbe1diHrtM9Q0oD5wek130_provenance.
- NP286834.RA6M9bgHEB1marw6Z2h9Kyh7hbXbe1diHrtM9Q0oD5wek130_assertion SIO_000772 12374764 NP286834.RA6M9bgHEB1marw6Z2h9Kyh7hbXbe1diHrtM9Q0oD5wek130_provenance.
- NP286834.RA6M9bgHEB1marw6Z2h9Kyh7hbXbe1diHrtM9Q0oD5wek130_assertion evidence source_evidence_literature NP286834.RA6M9bgHEB1marw6Z2h9Kyh7hbXbe1diHrtM9Q0oD5wek130_provenance.
- NP286834.RA6M9bgHEB1marw6Z2h9Kyh7hbXbe1diHrtM9Q0oD5wek130_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." NP286834.RA6M9bgHEB1marw6Z2h9Kyh7hbXbe1diHrtM9Q0oD5wek130_provenance.