Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP805816.RAVXvJ9WuaNBWIlzwvPMAv7LzxdZfp--pgkE11sY7ZLb8130_assertion> ?p ?o ?g. }
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- NP805816.RAVXvJ9WuaNBWIlzwvPMAv7LzxdZfp--pgkE11sY7ZLb8130_assertion type Assertion NP805816.RAVXvJ9WuaNBWIlzwvPMAv7LzxdZfp--pgkE11sY7ZLb8130_head.
- NP805816.RAVXvJ9WuaNBWIlzwvPMAv7LzxdZfp--pgkE11sY7ZLb8130_assertion description "[We therefore screened the WAS gene in 14 young SCN males with wild-type ELA2 and identified 2 with novel mutations, one who presented with myelodysplasia (Ile294Thr) and the other with classic SCN (Ser270Pro).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP805816.RAVXvJ9WuaNBWIlzwvPMAv7LzxdZfp--pgkE11sY7ZLb8130_provenance.
- NP805816.RAVXvJ9WuaNBWIlzwvPMAv7LzxdZfp--pgkE11sY7ZLb8130_assertion evidence source_evidence_literature NP805816.RAVXvJ9WuaNBWIlzwvPMAv7LzxdZfp--pgkE11sY7ZLb8130_provenance.
- NP805816.RAVXvJ9WuaNBWIlzwvPMAv7LzxdZfp--pgkE11sY7ZLb8130_assertion SIO_000772 16804117 NP805816.RAVXvJ9WuaNBWIlzwvPMAv7LzxdZfp--pgkE11sY7ZLb8130_provenance.
- NP805816.RAVXvJ9WuaNBWIlzwvPMAv7LzxdZfp--pgkE11sY7ZLb8130_assertion wasDerivedFrom befree-20140225 NP805816.RAVXvJ9WuaNBWIlzwvPMAv7LzxdZfp--pgkE11sY7ZLb8130_provenance.
- NP805816.RAVXvJ9WuaNBWIlzwvPMAv7LzxdZfp--pgkE11sY7ZLb8130_assertion wasGeneratedBy ECO_0000203 NP805816.RAVXvJ9WuaNBWIlzwvPMAv7LzxdZfp--pgkE11sY7ZLb8130_provenance.