Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1370623.RAphyeuCdOmqA0MUyWKCVjuOI444V9uUx_UaKMrjvJVQk#assertion> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 23456818 provenance.
- assertion evidence source_evidence_literature 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.