Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP545152.RA2ePBbeCUJ0rN8xFVZxlZg2j5pvYSrDOlmZYIcI8uMQQ130_assertion> ?p ?o ?g. }
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- NP545152.RA2ePBbeCUJ0rN8xFVZxlZg2j5pvYSrDOlmZYIcI8uMQQ130_assertion type Assertion NP545152.RA2ePBbeCUJ0rN8xFVZxlZg2j5pvYSrDOlmZYIcI8uMQQ130_head.
- NP545152.RA2ePBbeCUJ0rN8xFVZxlZg2j5pvYSrDOlmZYIcI8uMQQ130_assertion description "[Although mutations in eight different genes (EDNRB, EDN3, ECE1, SOX10, RET, GDNF, NTN, SIP1) have been identified in affected individuals, it is now clear that RET and EDNRB are the primary genes implicated in the etiology of HSCR.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP545152.RA2ePBbeCUJ0rN8xFVZxlZg2j5pvYSrDOlmZYIcI8uMQQ130_provenance.
- NP545152.RA2ePBbeCUJ0rN8xFVZxlZg2j5pvYSrDOlmZYIcI8uMQQ130_assertion evidence source_evidence_literature NP545152.RA2ePBbeCUJ0rN8xFVZxlZg2j5pvYSrDOlmZYIcI8uMQQ130_provenance.
- NP545152.RA2ePBbeCUJ0rN8xFVZxlZg2j5pvYSrDOlmZYIcI8uMQQ130_assertion SIO_000772 16618617 NP545152.RA2ePBbeCUJ0rN8xFVZxlZg2j5pvYSrDOlmZYIcI8uMQQ130_provenance.
- NP545152.RA2ePBbeCUJ0rN8xFVZxlZg2j5pvYSrDOlmZYIcI8uMQQ130_assertion wasDerivedFrom befree-2016 NP545152.RA2ePBbeCUJ0rN8xFVZxlZg2j5pvYSrDOlmZYIcI8uMQQ130_provenance.
- NP545152.RA2ePBbeCUJ0rN8xFVZxlZg2j5pvYSrDOlmZYIcI8uMQQ130_assertion wasGeneratedBy ECO_0000203 NP545152.RA2ePBbeCUJ0rN8xFVZxlZg2j5pvYSrDOlmZYIcI8uMQQ130_provenance.