Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP146812.RAUjb81xMcshhwfx5pdFGbml5aiATipsFi7hMObBx3LeY130_assertion> ?p ?o ?g. }
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- NP146812.RAUjb81xMcshhwfx5pdFGbml5aiATipsFi7hMObBx3LeY130_assertion type Assertion NP146812.RAUjb81xMcshhwfx5pdFGbml5aiATipsFi7hMObBx3LeY130_head.
- NP146812.RAUjb81xMcshhwfx5pdFGbml5aiATipsFi7hMObBx3LeY130_assertion wasGeneratedBy ECO_0000203 NP146812.RAUjb81xMcshhwfx5pdFGbml5aiATipsFi7hMObBx3LeY130_provenance.
- NP146812.RAUjb81xMcshhwfx5pdFGbml5aiATipsFi7hMObBx3LeY130_assertion wasDerivedFrom lhgdn-20090331 NP146812.RAUjb81xMcshhwfx5pdFGbml5aiATipsFi7hMObBx3LeY130_provenance.
- NP146812.RAUjb81xMcshhwfx5pdFGbml5aiATipsFi7hMObBx3LeY130_assertion SIO_000772 17400488 NP146812.RAUjb81xMcshhwfx5pdFGbml5aiATipsFi7hMObBx3LeY130_provenance.
- NP146812.RAUjb81xMcshhwfx5pdFGbml5aiATipsFi7hMObBx3LeY130_assertion evidence source_evidence_literature NP146812.RAUjb81xMcshhwfx5pdFGbml5aiATipsFi7hMObBx3LeY130_provenance.
- NP146812.RAUjb81xMcshhwfx5pdFGbml5aiATipsFi7hMObBx3LeY130_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." NP146812.RAUjb81xMcshhwfx5pdFGbml5aiATipsFi7hMObBx3LeY130_provenance.