Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1215940.RA7FYSdOV7u9H6ghPAmQHM4ka555qcaKA6D7vCdeOi0IU130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP1215940.RA7FYSdOV7u9H6ghPAmQHM4ka555qcaKA6D7vCdeOi0IU130_assertion type Assertion NP1215940.RA7FYSdOV7u9H6ghPAmQHM4ka555qcaKA6D7vCdeOi0IU130_head.
- NP1215940.RA7FYSdOV7u9H6ghPAmQHM4ka555qcaKA6D7vCdeOi0IU130_assertion description "[Here we provide an overview on both pathophysiology and the extremely heterogeneous clinical presentations of the disorders reported so far (Sengers syndrome (due to mutations in AGK), MEGDEL syndrome (or SERAC defect, SERAC1), Barth syndrome (or TAZ defect, TAZ), congenital muscular dystrophy due to CHKB deficiency (CHKB).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1215940.RA7FYSdOV7u9H6ghPAmQHM4ka555qcaKA6D7vCdeOi0IU130_provenance.
- NP1215940.RA7FYSdOV7u9H6ghPAmQHM4ka555qcaKA6D7vCdeOi0IU130_assertion evidence source_evidence_literature NP1215940.RA7FYSdOV7u9H6ghPAmQHM4ka555qcaKA6D7vCdeOi0IU130_provenance.
- NP1215940.RA7FYSdOV7u9H6ghPAmQHM4ka555qcaKA6D7vCdeOi0IU130_assertion SIO_000772 25178427 NP1215940.RA7FYSdOV7u9H6ghPAmQHM4ka555qcaKA6D7vCdeOi0IU130_provenance.
- NP1215940.RA7FYSdOV7u9H6ghPAmQHM4ka555qcaKA6D7vCdeOi0IU130_assertion wasDerivedFrom befree-2016 NP1215940.RA7FYSdOV7u9H6ghPAmQHM4ka555qcaKA6D7vCdeOi0IU130_provenance.
- NP1215940.RA7FYSdOV7u9H6ghPAmQHM4ka555qcaKA6D7vCdeOi0IU130_assertion wasGeneratedBy ECO_0000203 NP1215940.RA7FYSdOV7u9H6ghPAmQHM4ka555qcaKA6D7vCdeOi0IU130_provenance.