Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1215941.RAomF8kGq5yxsoX-9TdQE9NZjmmtHyB1LMm01pNyImmhc130_assertion> ?p ?o ?g. }
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- NP1215941.RAomF8kGq5yxsoX-9TdQE9NZjmmtHyB1LMm01pNyImmhc130_assertion type Assertion NP1215941.RAomF8kGq5yxsoX-9TdQE9NZjmmtHyB1LMm01pNyImmhc130_head.
- NP1215941.RAomF8kGq5yxsoX-9TdQE9NZjmmtHyB1LMm01pNyImmhc130_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." NP1215941.RAomF8kGq5yxsoX-9TdQE9NZjmmtHyB1LMm01pNyImmhc130_provenance.
- NP1215941.RAomF8kGq5yxsoX-9TdQE9NZjmmtHyB1LMm01pNyImmhc130_assertion evidence source_evidence_literature NP1215941.RAomF8kGq5yxsoX-9TdQE9NZjmmtHyB1LMm01pNyImmhc130_provenance.
- NP1215941.RAomF8kGq5yxsoX-9TdQE9NZjmmtHyB1LMm01pNyImmhc130_assertion SIO_000772 25178427 NP1215941.RAomF8kGq5yxsoX-9TdQE9NZjmmtHyB1LMm01pNyImmhc130_provenance.
- NP1215941.RAomF8kGq5yxsoX-9TdQE9NZjmmtHyB1LMm01pNyImmhc130_assertion wasDerivedFrom befree-2016 NP1215941.RAomF8kGq5yxsoX-9TdQE9NZjmmtHyB1LMm01pNyImmhc130_provenance.
- NP1215941.RAomF8kGq5yxsoX-9TdQE9NZjmmtHyB1LMm01pNyImmhc130_assertion wasGeneratedBy ECO_0000203 NP1215941.RAomF8kGq5yxsoX-9TdQE9NZjmmtHyB1LMm01pNyImmhc130_provenance.