Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP658307.RAFpFZG_SgAJ9z6L-CKrgGyvMD2ZDNXnzk9MkVsLK4lf8130_assertion> ?p ?o ?g. }
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- NP658307.RAFpFZG_SgAJ9z6L-CKrgGyvMD2ZDNXnzk9MkVsLK4lf8130_assertion type Assertion NP658307.RAFpFZG_SgAJ9z6L-CKrgGyvMD2ZDNXnzk9MkVsLK4lf8130_head.
- NP658307.RAFpFZG_SgAJ9z6L-CKrgGyvMD2ZDNXnzk9MkVsLK4lf8130_assertion description "[Hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) syndrome (MIM 146255) is a rare autosomal dominant disorder caused by mutations in the gene encoding GATA3, a dual zinc-finger transcription factor involved in vertebrate embryonic development.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP658307.RAFpFZG_SgAJ9z6L-CKrgGyvMD2ZDNXnzk9MkVsLK4lf8130_provenance.
- NP658307.RAFpFZG_SgAJ9z6L-CKrgGyvMD2ZDNXnzk9MkVsLK4lf8130_assertion evidence source_evidence_literature NP658307.RAFpFZG_SgAJ9z6L-CKrgGyvMD2ZDNXnzk9MkVsLK4lf8130_provenance.
- NP658307.RAFpFZG_SgAJ9z6L-CKrgGyvMD2ZDNXnzk9MkVsLK4lf8130_assertion SIO_000772 23203342 NP658307.RAFpFZG_SgAJ9z6L-CKrgGyvMD2ZDNXnzk9MkVsLK4lf8130_provenance.
- NP658307.RAFpFZG_SgAJ9z6L-CKrgGyvMD2ZDNXnzk9MkVsLK4lf8130_assertion wasDerivedFrom befree-20140225 NP658307.RAFpFZG_SgAJ9z6L-CKrgGyvMD2ZDNXnzk9MkVsLK4lf8130_provenance.
- NP658307.RAFpFZG_SgAJ9z6L-CKrgGyvMD2ZDNXnzk9MkVsLK4lf8130_assertion wasGeneratedBy ECO_0000203 NP658307.RAFpFZG_SgAJ9z6L-CKrgGyvMD2ZDNXnzk9MkVsLK4lf8130_provenance.