Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP516493.RA8Z9BRwE4G41RgYa5RKDSkPIfpIG2XNr_n2xUyv3mhNE130_assertion> ?p ?o ?g. }
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- NP516493.RA8Z9BRwE4G41RgYa5RKDSkPIfpIG2XNr_n2xUyv3mhNE130_assertion type Assertion NP516493.RA8Z9BRwE4G41RgYa5RKDSkPIfpIG2XNr_n2xUyv3mhNE130_head.
- NP516493.RA8Z9BRwE4G41RgYa5RKDSkPIfpIG2XNr_n2xUyv3mhNE130_assertion description "[Together these data show that variable loss of function due to alterations in the runt and PST domains of CBFA1 may give rise to clinical variability, including classic CCD, mild CCD and isolated primary dental anomalies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP516493.RA8Z9BRwE4G41RgYa5RKDSkPIfpIG2XNr_n2xUyv3mhNE130_provenance.
- NP516493.RA8Z9BRwE4G41RgYa5RKDSkPIfpIG2XNr_n2xUyv3mhNE130_assertion evidence source_evidence_literature NP516493.RA8Z9BRwE4G41RgYa5RKDSkPIfpIG2XNr_n2xUyv3mhNE130_provenance.
- NP516493.RA8Z9BRwE4G41RgYa5RKDSkPIfpIG2XNr_n2xUyv3mhNE130_assertion SIO_000772 10545612 NP516493.RA8Z9BRwE4G41RgYa5RKDSkPIfpIG2XNr_n2xUyv3mhNE130_provenance.
- NP516493.RA8Z9BRwE4G41RgYa5RKDSkPIfpIG2XNr_n2xUyv3mhNE130_assertion wasDerivedFrom befree-20140225 NP516493.RA8Z9BRwE4G41RgYa5RKDSkPIfpIG2XNr_n2xUyv3mhNE130_provenance.
- NP516493.RA8Z9BRwE4G41RgYa5RKDSkPIfpIG2XNr_n2xUyv3mhNE130_assertion wasGeneratedBy ECO_0000203 NP516493.RA8Z9BRwE4G41RgYa5RKDSkPIfpIG2XNr_n2xUyv3mhNE130_provenance.