Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP193175.RAfblGLx6Q6TQwv42e4W5FPNJv9M5r9r1kVLG7rT3lmv8130_assertion> ?p ?o ?g. }
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- NP193175.RAfblGLx6Q6TQwv42e4W5FPNJv9M5r9r1kVLG7rT3lmv8130_assertion type Assertion NP193175.RAfblGLx6Q6TQwv42e4W5FPNJv9M5r9r1kVLG7rT3lmv8130_head.
- NP193175.RAfblGLx6Q6TQwv42e4W5FPNJv9M5r9r1kVLG7rT3lmv8130_assertion description "[A constitutional de novo interstitial deletion of 8 Mb on chromosome 22q12.1-12.3 encompassing the neurofibromatosis type 2 (NF2) locus in a dysmorphic girl with severe malformations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP193175.RAfblGLx6Q6TQwv42e4W5FPNJv9M5r9r1kVLG7rT3lmv8130_provenance.
- NP193175.RAfblGLx6Q6TQwv42e4W5FPNJv9M5r9r1kVLG7rT3lmv8130_assertion evidence source_evidence_literature NP193175.RAfblGLx6Q6TQwv42e4W5FPNJv9M5r9r1kVLG7rT3lmv8130_provenance.
- NP193175.RAfblGLx6Q6TQwv42e4W5FPNJv9M5r9r1kVLG7rT3lmv8130_assertion SIO_000772 11836375 NP193175.RAfblGLx6Q6TQwv42e4W5FPNJv9M5r9r1kVLG7rT3lmv8130_provenance.
- NP193175.RAfblGLx6Q6TQwv42e4W5FPNJv9M5r9r1kVLG7rT3lmv8130_assertion wasDerivedFrom lhgdn-20090331 NP193175.RAfblGLx6Q6TQwv42e4W5FPNJv9M5r9r1kVLG7rT3lmv8130_provenance.
- NP193175.RAfblGLx6Q6TQwv42e4W5FPNJv9M5r9r1kVLG7rT3lmv8130_assertion wasGeneratedBy ECO_0000203 NP193175.RAfblGLx6Q6TQwv42e4W5FPNJv9M5r9r1kVLG7rT3lmv8130_provenance.