Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP375350.RAoHEYkGg6sb7IT7b0CfGvAxVyjSB2HlsP4p2QpK2AcIU130_assertion> ?p ?o ?g. }
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- NP375350.RAoHEYkGg6sb7IT7b0CfGvAxVyjSB2HlsP4p2QpK2AcIU130_assertion type Assertion NP375350.RAoHEYkGg6sb7IT7b0CfGvAxVyjSB2HlsP4p2QpK2AcIU130_head.
- NP375350.RAoHEYkGg6sb7IT7b0CfGvAxVyjSB2HlsP4p2QpK2AcIU130_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." NP375350.RAoHEYkGg6sb7IT7b0CfGvAxVyjSB2HlsP4p2QpK2AcIU130_provenance.
- NP375350.RAoHEYkGg6sb7IT7b0CfGvAxVyjSB2HlsP4p2QpK2AcIU130_assertion evidence source_evidence_literature NP375350.RAoHEYkGg6sb7IT7b0CfGvAxVyjSB2HlsP4p2QpK2AcIU130_provenance.
- NP375350.RAoHEYkGg6sb7IT7b0CfGvAxVyjSB2HlsP4p2QpK2AcIU130_assertion SIO_000772 12445216 NP375350.RAoHEYkGg6sb7IT7b0CfGvAxVyjSB2HlsP4p2QpK2AcIU130_provenance.
- NP375350.RAoHEYkGg6sb7IT7b0CfGvAxVyjSB2HlsP4p2QpK2AcIU130_assertion wasDerivedFrom befree-2016 NP375350.RAoHEYkGg6sb7IT7b0CfGvAxVyjSB2HlsP4p2QpK2AcIU130_provenance.
- NP375350.RAoHEYkGg6sb7IT7b0CfGvAxVyjSB2HlsP4p2QpK2AcIU130_assertion wasGeneratedBy ECO_0000203 NP375350.RAoHEYkGg6sb7IT7b0CfGvAxVyjSB2HlsP4p2QpK2AcIU130_provenance.