Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP123424.RAuP4Jo5AyZ6uzepFQFmbhKY_7PtfD0AbiCWj_syYyMBE130_assertion> ?p ?o ?g. }
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- NP123424.RAuP4Jo5AyZ6uzepFQFmbhKY_7PtfD0AbiCWj_syYyMBE130_assertion type Assertion NP123424.RAuP4Jo5AyZ6uzepFQFmbhKY_7PtfD0AbiCWj_syYyMBE130_head.
- NP123424.RAuP4Jo5AyZ6uzepFQFmbhKY_7PtfD0AbiCWj_syYyMBE130_assertion description "[A branch-site mutation leading to abnormal splicing of exon 13 of the endoglin transcript was identified in a child with hereditary hemorrhagic telangiectasia related pulmonary arterial hypertension.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP123424.RAuP4Jo5AyZ6uzepFQFmbhKY_7PtfD0AbiCWj_syYyMBE130_provenance.
- NP123424.RAuP4Jo5AyZ6uzepFQFmbhKY_7PtfD0AbiCWj_syYyMBE130_assertion evidence source_evidence_literature NP123424.RAuP4Jo5AyZ6uzepFQFmbhKY_7PtfD0AbiCWj_syYyMBE130_provenance.
- NP123424.RAuP4Jo5AyZ6uzepFQFmbhKY_7PtfD0AbiCWj_syYyMBE130_assertion SIO_000772 15687131 NP123424.RAuP4Jo5AyZ6uzepFQFmbhKY_7PtfD0AbiCWj_syYyMBE130_provenance.
- NP123424.RAuP4Jo5AyZ6uzepFQFmbhKY_7PtfD0AbiCWj_syYyMBE130_assertion wasDerivedFrom lhgdn-20090331 NP123424.RAuP4Jo5AyZ6uzepFQFmbhKY_7PtfD0AbiCWj_syYyMBE130_provenance.
- NP123424.RAuP4Jo5AyZ6uzepFQFmbhKY_7PtfD0AbiCWj_syYyMBE130_assertion wasGeneratedBy ECO_0000203 NP123424.RAuP4Jo5AyZ6uzepFQFmbhKY_7PtfD0AbiCWj_syYyMBE130_provenance.