Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP4114.RA3AFCIu_AgMF4d5OouMkVSZCIOuwxTB0aCMiAAveBCNQ130_assertion> ?p ?o ?g. }
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- NP4114.RA3AFCIu_AgMF4d5OouMkVSZCIOuwxTB0aCMiAAveBCNQ130_assertion type Assertion NP4114.RA3AFCIu_AgMF4d5OouMkVSZCIOuwxTB0aCMiAAveBCNQ130_head.
- NP4114.RA3AFCIu_AgMF4d5OouMkVSZCIOuwxTB0aCMiAAveBCNQ130_assertion wasGeneratedBy ECO_0000218 NP4114.RA3AFCIu_AgMF4d5OouMkVSZCIOuwxTB0aCMiAAveBCNQ130_provenance.
- NP4114.RA3AFCIu_AgMF4d5OouMkVSZCIOuwxTB0aCMiAAveBCNQ130_assertion wasDerivedFrom uniprot-20150221 NP4114.RA3AFCIu_AgMF4d5OouMkVSZCIOuwxTB0aCMiAAveBCNQ130_provenance.
- NP4114.RA3AFCIu_AgMF4d5OouMkVSZCIOuwxTB0aCMiAAveBCNQ130_assertion SIO_000772 23456818 NP4114.RA3AFCIu_AgMF4d5OouMkVSZCIOuwxTB0aCMiAAveBCNQ130_provenance.
- NP4114.RA3AFCIu_AgMF4d5OouMkVSZCIOuwxTB0aCMiAAveBCNQ130_assertion evidence source_evidence_curated NP4114.RA3AFCIu_AgMF4d5OouMkVSZCIOuwxTB0aCMiAAveBCNQ130_provenance.
- NP4114.RA3AFCIu_AgMF4d5OouMkVSZCIOuwxTB0aCMiAAveBCNQ130_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." NP4114.RA3AFCIu_AgMF4d5OouMkVSZCIOuwxTB0aCMiAAveBCNQ130_provenance.