Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP300000.RAyJ_Jr602y906PO2RhojogtCMWUG5KxEsE-kH7k7z9xk130_assertion> ?p ?o ?g. }
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- NP300000.RAyJ_Jr602y906PO2RhojogtCMWUG5KxEsE-kH7k7z9xk130_assertion type Assertion NP300000.RAyJ_Jr602y906PO2RhojogtCMWUG5KxEsE-kH7k7z9xk130_head.
- NP300000.RAyJ_Jr602y906PO2RhojogtCMWUG5KxEsE-kH7k7z9xk130_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." NP300000.RAyJ_Jr602y906PO2RhojogtCMWUG5KxEsE-kH7k7z9xk130_provenance.
- NP300000.RAyJ_Jr602y906PO2RhojogtCMWUG5KxEsE-kH7k7z9xk130_assertion evidence source_evidence_literature NP300000.RAyJ_Jr602y906PO2RhojogtCMWUG5KxEsE-kH7k7z9xk130_provenance.
- NP300000.RAyJ_Jr602y906PO2RhojogtCMWUG5KxEsE-kH7k7z9xk130_assertion SIO_000772 12445216 NP300000.RAyJ_Jr602y906PO2RhojogtCMWUG5KxEsE-kH7k7z9xk130_provenance.
- NP300000.RAyJ_Jr602y906PO2RhojogtCMWUG5KxEsE-kH7k7z9xk130_assertion wasDerivedFrom befree-20150227 NP300000.RAyJ_Jr602y906PO2RhojogtCMWUG5KxEsE-kH7k7z9xk130_provenance.
- NP300000.RAyJ_Jr602y906PO2RhojogtCMWUG5KxEsE-kH7k7z9xk130_assertion wasGeneratedBy ECO_0000203 NP300000.RAyJ_Jr602y906PO2RhojogtCMWUG5KxEsE-kH7k7z9xk130_provenance.