Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP223894.RA-LX0Ed3uU4IdMxCMG5vWUdORZplTdfgu8RADKJqwmUE130_assertion> ?p ?o ?g. }
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- NP223894.RA-LX0Ed3uU4IdMxCMG5vWUdORZplTdfgu8RADKJqwmUE130_assertion type Assertion NP223894.RA-LX0Ed3uU4IdMxCMG5vWUdORZplTdfgu8RADKJqwmUE130_head.
- NP223894.RA-LX0Ed3uU4IdMxCMG5vWUdORZplTdfgu8RADKJqwmUE130_assertion wasGeneratedBy ECO_0000203 NP223894.RA-LX0Ed3uU4IdMxCMG5vWUdORZplTdfgu8RADKJqwmUE130_provenance.
- NP223894.RA-LX0Ed3uU4IdMxCMG5vWUdORZplTdfgu8RADKJqwmUE130_assertion wasDerivedFrom lhgdn-20090331 NP223894.RA-LX0Ed3uU4IdMxCMG5vWUdORZplTdfgu8RADKJqwmUE130_provenance.
- NP223894.RA-LX0Ed3uU4IdMxCMG5vWUdORZplTdfgu8RADKJqwmUE130_assertion SIO_000772 17400488 NP223894.RA-LX0Ed3uU4IdMxCMG5vWUdORZplTdfgu8RADKJqwmUE130_provenance.
- NP223894.RA-LX0Ed3uU4IdMxCMG5vWUdORZplTdfgu8RADKJqwmUE130_assertion evidence source_evidence_literature NP223894.RA-LX0Ed3uU4IdMxCMG5vWUdORZplTdfgu8RADKJqwmUE130_provenance.
- NP223894.RA-LX0Ed3uU4IdMxCMG5vWUdORZplTdfgu8RADKJqwmUE130_assertion description "[study found 28 novel WAS mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia (7 missense, 1 nonsense, 1 nonstop change, 5 splice site mutations and 14 deletions or insertions) ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP223894.RA-LX0Ed3uU4IdMxCMG5vWUdORZplTdfgu8RADKJqwmUE130_provenance.