Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP299959.RAbff5pNflqRk3PAMPuIc6AUowVT1KHUhYFDnMiKfUZy4130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP299959.RAbff5pNflqRk3PAMPuIc6AUowVT1KHUhYFDnMiKfUZy4130_assertion type Assertion NP299959.RAbff5pNflqRk3PAMPuIc6AUowVT1KHUhYFDnMiKfUZy4130_head.
- NP299959.RAbff5pNflqRk3PAMPuIc6AUowVT1KHUhYFDnMiKfUZy4130_assertion description "[Our data establish recessive mutations in CDH3 as the molecular cause of hypotrichosis with juvenile macular dystrophy and expand our understanding of the pathophysiology of this intriguing disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP299959.RAbff5pNflqRk3PAMPuIc6AUowVT1KHUhYFDnMiKfUZy4130_provenance.
- NP299959.RAbff5pNflqRk3PAMPuIc6AUowVT1KHUhYFDnMiKfUZy4130_assertion evidence source_evidence_literature NP299959.RAbff5pNflqRk3PAMPuIc6AUowVT1KHUhYFDnMiKfUZy4130_provenance.
- NP299959.RAbff5pNflqRk3PAMPuIc6AUowVT1KHUhYFDnMiKfUZy4130_assertion SIO_000772 12445216 NP299959.RAbff5pNflqRk3PAMPuIc6AUowVT1KHUhYFDnMiKfUZy4130_provenance.
- NP299959.RAbff5pNflqRk3PAMPuIc6AUowVT1KHUhYFDnMiKfUZy4130_assertion wasDerivedFrom befree-20150227 NP299959.RAbff5pNflqRk3PAMPuIc6AUowVT1KHUhYFDnMiKfUZy4130_provenance.
- NP299959.RAbff5pNflqRk3PAMPuIc6AUowVT1KHUhYFDnMiKfUZy4130_assertion wasGeneratedBy ECO_0000203 NP299959.RAbff5pNflqRk3PAMPuIc6AUowVT1KHUhYFDnMiKfUZy4130_provenance.