Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP152704.RAacPI9qIOXBgMS5UZhDE4UK73JHEGA6QLUDhIvChejDg130_assertion> ?p ?o ?g. }
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- NP152704.RAacPI9qIOXBgMS5UZhDE4UK73JHEGA6QLUDhIvChejDg130_assertion type Assertion NP152704.RAacPI9qIOXBgMS5UZhDE4UK73JHEGA6QLUDhIvChejDg130_head.
- NP152704.RAacPI9qIOXBgMS5UZhDE4UK73JHEGA6QLUDhIvChejDg130_assertion description "[The hereditary hemorrhagic telangiectasia family is caused by a 145delG mutation of ACVRL1 gene, resulting in frameshift and a new stop codon at codon 53.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP152704.RAacPI9qIOXBgMS5UZhDE4UK73JHEGA6QLUDhIvChejDg130_provenance.
- NP152704.RAacPI9qIOXBgMS5UZhDE4UK73JHEGA6QLUDhIvChejDg130_assertion evidence source_evidence_literature NP152704.RAacPI9qIOXBgMS5UZhDE4UK73JHEGA6QLUDhIvChejDg130_provenance.
- NP152704.RAacPI9qIOXBgMS5UZhDE4UK73JHEGA6QLUDhIvChejDg130_assertion SIO_000772 18543223 NP152704.RAacPI9qIOXBgMS5UZhDE4UK73JHEGA6QLUDhIvChejDg130_provenance.
- NP152704.RAacPI9qIOXBgMS5UZhDE4UK73JHEGA6QLUDhIvChejDg130_assertion wasDerivedFrom lhgdn-20090331 NP152704.RAacPI9qIOXBgMS5UZhDE4UK73JHEGA6QLUDhIvChejDg130_provenance.
- NP152704.RAacPI9qIOXBgMS5UZhDE4UK73JHEGA6QLUDhIvChejDg130_assertion wasGeneratedBy ECO_0000203 NP152704.RAacPI9qIOXBgMS5UZhDE4UK73JHEGA6QLUDhIvChejDg130_provenance.