Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP553203.RAtykCj2McnS2hreX96mf1TjeMegz_L6P3c23Y1KmUdow130_assertion> ?p ?o ?g. }
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- NP553203.RAtykCj2McnS2hreX96mf1TjeMegz_L6P3c23Y1KmUdow130_assertion type Assertion NP553203.RAtykCj2McnS2hreX96mf1TjeMegz_L6P3c23Y1KmUdow130_head.
- NP553203.RAtykCj2McnS2hreX96mf1TjeMegz_L6P3c23Y1KmUdow130_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." NP553203.RAtykCj2McnS2hreX96mf1TjeMegz_L6P3c23Y1KmUdow130_provenance.
- NP553203.RAtykCj2McnS2hreX96mf1TjeMegz_L6P3c23Y1KmUdow130_assertion evidence source_evidence_literature NP553203.RAtykCj2McnS2hreX96mf1TjeMegz_L6P3c23Y1KmUdow130_provenance.
- NP553203.RAtykCj2McnS2hreX96mf1TjeMegz_L6P3c23Y1KmUdow130_assertion SIO_000772 18084346 NP553203.RAtykCj2McnS2hreX96mf1TjeMegz_L6P3c23Y1KmUdow130_provenance.
- NP553203.RAtykCj2McnS2hreX96mf1TjeMegz_L6P3c23Y1KmUdow130_assertion wasDerivedFrom befree-20150227 NP553203.RAtykCj2McnS2hreX96mf1TjeMegz_L6P3c23Y1KmUdow130_provenance.
- NP553203.RAtykCj2McnS2hreX96mf1TjeMegz_L6P3c23Y1KmUdow130_assertion wasGeneratedBy ECO_0000203 NP553203.RAtykCj2McnS2hreX96mf1TjeMegz_L6P3c23Y1KmUdow130_provenance.