Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1021071.RAbLl-G5ne1Iy8lPMA_XbUSGTwl9twKcv9dffDfrg3ZZg130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP1021071.RAbLl-G5ne1Iy8lPMA_XbUSGTwl9twKcv9dffDfrg3ZZg130_assertion type Assertion NP1021071.RAbLl-G5ne1Iy8lPMA_XbUSGTwl9twKcv9dffDfrg3ZZg130_head.
- NP1021071.RAbLl-G5ne1Iy8lPMA_XbUSGTwl9twKcv9dffDfrg3ZZg130_assertion description "[Here, we report on two novel mutations in COL4A1 in two families with porencephaly, intracerebral hemorrhage and severe white matter disease caused by haploinsufficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1021071.RAbLl-G5ne1Iy8lPMA_XbUSGTwl9twKcv9dffDfrg3ZZg130_provenance.
- NP1021071.RAbLl-G5ne1Iy8lPMA_XbUSGTwl9twKcv9dffDfrg3ZZg130_assertion evidence source_evidence_literature NP1021071.RAbLl-G5ne1Iy8lPMA_XbUSGTwl9twKcv9dffDfrg3ZZg130_provenance.
- NP1021071.RAbLl-G5ne1Iy8lPMA_XbUSGTwl9twKcv9dffDfrg3ZZg130_assertion SIO_000772 23065703 NP1021071.RAbLl-G5ne1Iy8lPMA_XbUSGTwl9twKcv9dffDfrg3ZZg130_provenance.
- NP1021071.RAbLl-G5ne1Iy8lPMA_XbUSGTwl9twKcv9dffDfrg3ZZg130_assertion wasDerivedFrom befree-2016 NP1021071.RAbLl-G5ne1Iy8lPMA_XbUSGTwl9twKcv9dffDfrg3ZZg130_provenance.
- NP1021071.RAbLl-G5ne1Iy8lPMA_XbUSGTwl9twKcv9dffDfrg3ZZg130_assertion wasGeneratedBy ECO_0000203 NP1021071.RAbLl-G5ne1Iy8lPMA_XbUSGTwl9twKcv9dffDfrg3ZZg130_provenance.