Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP556866.RAaRVu6V3HK72JNcy0T3Y-_KOX8O-FcCP7_Q7F_jHm08E130_assertion> ?p ?o ?g. }
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- NP556866.RAaRVu6V3HK72JNcy0T3Y-_KOX8O-FcCP7_Q7F_jHm08E130_assertion type Assertion NP556866.RAaRVu6V3HK72JNcy0T3Y-_KOX8O-FcCP7_Q7F_jHm08E130_head.
- NP556866.RAaRVu6V3HK72JNcy0T3Y-_KOX8O-FcCP7_Q7F_jHm08E130_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." NP556866.RAaRVu6V3HK72JNcy0T3Y-_KOX8O-FcCP7_Q7F_jHm08E130_provenance.
- NP556866.RAaRVu6V3HK72JNcy0T3Y-_KOX8O-FcCP7_Q7F_jHm08E130_assertion evidence source_evidence_literature NP556866.RAaRVu6V3HK72JNcy0T3Y-_KOX8O-FcCP7_Q7F_jHm08E130_provenance.
- NP556866.RAaRVu6V3HK72JNcy0T3Y-_KOX8O-FcCP7_Q7F_jHm08E130_assertion SIO_000772 16804117 NP556866.RAaRVu6V3HK72JNcy0T3Y-_KOX8O-FcCP7_Q7F_jHm08E130_provenance.
- NP556866.RAaRVu6V3HK72JNcy0T3Y-_KOX8O-FcCP7_Q7F_jHm08E130_assertion wasDerivedFrom befree-2016 NP556866.RAaRVu6V3HK72JNcy0T3Y-_KOX8O-FcCP7_Q7F_jHm08E130_provenance.
- NP556866.RAaRVu6V3HK72JNcy0T3Y-_KOX8O-FcCP7_Q7F_jHm08E130_assertion wasGeneratedBy ECO_0000203 NP556866.RAaRVu6V3HK72JNcy0T3Y-_KOX8O-FcCP7_Q7F_jHm08E130_provenance.