Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP382759.RA0k845vVWA449ju3T9MzdDCh51T8V6PmpXum4eZHGYPo130_assertion> ?p ?o ?g. }
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- NP382759.RA0k845vVWA449ju3T9MzdDCh51T8V6PmpXum4eZHGYPo130_assertion type Assertion NP382759.RA0k845vVWA449ju3T9MzdDCh51T8V6PmpXum4eZHGYPo130_head.
- NP382759.RA0k845vVWA449ju3T9MzdDCh51T8V6PmpXum4eZHGYPo130_assertion description "[Familial isolated primary hyperparathyroidism (FIHP) is an autosomal dominant disorder that can represent an early stage of either the multiple endocrine neoplasia type 1 (MEN1) or hyperparathyroidism-jaw tumor (HPT-JT) syndromes; alternatively, the condition can be caused by an allelic variant of MEN1 or HRPT2 (hyperparathyroidism 2 gene), or caused by a distinct entity involving another locus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP382759.RA0k845vVWA449ju3T9MzdDCh51T8V6PmpXum4eZHGYPo130_provenance.
- NP382759.RA0k845vVWA449ju3T9MzdDCh51T8V6PmpXum4eZHGYPo130_assertion evidence source_evidence_literature NP382759.RA0k845vVWA449ju3T9MzdDCh51T8V6PmpXum4eZHGYPo130_provenance.
- NP382759.RA0k845vVWA449ju3T9MzdDCh51T8V6PmpXum4eZHGYPo130_assertion SIO_000772 18084346 NP382759.RA0k845vVWA449ju3T9MzdDCh51T8V6PmpXum4eZHGYPo130_provenance.
- NP382759.RA0k845vVWA449ju3T9MzdDCh51T8V6PmpXum4eZHGYPo130_assertion wasDerivedFrom befree-20140225 NP382759.RA0k845vVWA449ju3T9MzdDCh51T8V6PmpXum4eZHGYPo130_provenance.
- NP382759.RA0k845vVWA449ju3T9MzdDCh51T8V6PmpXum4eZHGYPo130_assertion wasGeneratedBy ECO_0000203 NP382759.RA0k845vVWA449ju3T9MzdDCh51T8V6PmpXum4eZHGYPo130_provenance.