Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1370612.RATIUp90f06ZvB6w1VWV-2-Ad8HgLkC4_83q8H3dNwm1E#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000218 provenance.
- assertion wasDerivedFrom UNIPROT provenance.
- assertion SIO_000772 23456818 provenance.
- assertion evidence source_evidence_curated provenance.
- assertion description "[Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.