Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP567125.RAjkc-Xd1z9R0NGthnVwGbKCknUUal92wS9Z-TDyUIdI0130_assertion> ?p ?o ?g. }
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- NP567125.RAjkc-Xd1z9R0NGthnVwGbKCknUUal92wS9Z-TDyUIdI0130_assertion type Assertion NP567125.RAjkc-Xd1z9R0NGthnVwGbKCknUUal92wS9Z-TDyUIdI0130_head.
- NP567125.RAjkc-Xd1z9R0NGthnVwGbKCknUUal92wS9Z-TDyUIdI0130_assertion description "[Here, we describe 12 novel patients that carry MID1 mutations emphasizing that laryngo-tracheo-esophageal defects are very common in OS patients and, together with hypertelorism and hypospadias, are the most frequent findings among the full spectrum of OS clinical manifestations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP567125.RAjkc-Xd1z9R0NGthnVwGbKCknUUal92wS9Z-TDyUIdI0130_provenance.
- NP567125.RAjkc-Xd1z9R0NGthnVwGbKCknUUal92wS9Z-TDyUIdI0130_assertion evidence source_evidence_literature NP567125.RAjkc-Xd1z9R0NGthnVwGbKCknUUal92wS9Z-TDyUIdI0130_provenance.
- NP567125.RAjkc-Xd1z9R0NGthnVwGbKCknUUal92wS9Z-TDyUIdI0130_assertion SIO_000772 23791568 NP567125.RAjkc-Xd1z9R0NGthnVwGbKCknUUal92wS9Z-TDyUIdI0130_provenance.
- NP567125.RAjkc-Xd1z9R0NGthnVwGbKCknUUal92wS9Z-TDyUIdI0130_assertion wasDerivedFrom befree-20150227 NP567125.RAjkc-Xd1z9R0NGthnVwGbKCknUUal92wS9Z-TDyUIdI0130_provenance.
- NP567125.RAjkc-Xd1z9R0NGthnVwGbKCknUUal92wS9Z-TDyUIdI0130_assertion wasGeneratedBy ECO_0000203 NP567125.RAjkc-Xd1z9R0NGthnVwGbKCknUUal92wS9Z-TDyUIdI0130_provenance.