Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP30999.RAMi7XMzG-mVeaOeaCHxm376gy0MbsKDgXj343HT__o_I130_assertion> ?p ?o ?g. }
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- NP30999.RAMi7XMzG-mVeaOeaCHxm376gy0MbsKDgXj343HT__o_I130_assertion type Assertion NP30999.RAMi7XMzG-mVeaOeaCHxm376gy0MbsKDgXj343HT__o_I130_head.
- NP30999.RAMi7XMzG-mVeaOeaCHxm376gy0MbsKDgXj343HT__o_I130_assertion description "[Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP30999.RAMi7XMzG-mVeaOeaCHxm376gy0MbsKDgXj343HT__o_I130_provenance.
- NP30999.RAMi7XMzG-mVeaOeaCHxm376gy0MbsKDgXj343HT__o_I130_assertion evidence source_evidence_curated NP30999.RAMi7XMzG-mVeaOeaCHxm376gy0MbsKDgXj343HT__o_I130_provenance.
- NP30999.RAMi7XMzG-mVeaOeaCHxm376gy0MbsKDgXj343HT__o_I130_assertion SIO_000772 23542699 NP30999.RAMi7XMzG-mVeaOeaCHxm376gy0MbsKDgXj343HT__o_I130_provenance.
- NP30999.RAMi7XMzG-mVeaOeaCHxm376gy0MbsKDgXj343HT__o_I130_assertion wasDerivedFrom ctd_human-20130708 NP30999.RAMi7XMzG-mVeaOeaCHxm376gy0MbsKDgXj343HT__o_I130_provenance.
- NP30999.RAMi7XMzG-mVeaOeaCHxm376gy0MbsKDgXj343HT__o_I130_assertion wasGeneratedBy ECO_0000218 NP30999.RAMi7XMzG-mVeaOeaCHxm376gy0MbsKDgXj343HT__o_I130_provenance.