Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP480623.RAGcXmEsns9rPlj2Fvyk_rz8vIev6N2LDJhYWpTl8rCXU130_assertion> ?p ?o ?g. }
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- NP480623.RAGcXmEsns9rPlj2Fvyk_rz8vIev6N2LDJhYWpTl8rCXU130_assertion type Assertion NP480623.RAGcXmEsns9rPlj2Fvyk_rz8vIev6N2LDJhYWpTl8rCXU130_head.
- NP480623.RAGcXmEsns9rPlj2Fvyk_rz8vIev6N2LDJhYWpTl8rCXU130_assertion description "[DA type 5D (DA5D) is a rare, autosomal-recessive DA previously defined by us and is characterized by congenital contractures of the hands and feet, along with distinctive facial features, including ptosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP480623.RAGcXmEsns9rPlj2Fvyk_rz8vIev6N2LDJhYWpTl8rCXU130_provenance.
- NP480623.RAGcXmEsns9rPlj2Fvyk_rz8vIev6N2LDJhYWpTl8rCXU130_assertion evidence source_evidence_literature NP480623.RAGcXmEsns9rPlj2Fvyk_rz8vIev6N2LDJhYWpTl8rCXU130_provenance.
- NP480623.RAGcXmEsns9rPlj2Fvyk_rz8vIev6N2LDJhYWpTl8rCXU130_assertion SIO_000772 23261301 NP480623.RAGcXmEsns9rPlj2Fvyk_rz8vIev6N2LDJhYWpTl8rCXU130_provenance.
- NP480623.RAGcXmEsns9rPlj2Fvyk_rz8vIev6N2LDJhYWpTl8rCXU130_assertion wasDerivedFrom befree-20140225 NP480623.RAGcXmEsns9rPlj2Fvyk_rz8vIev6N2LDJhYWpTl8rCXU130_provenance.
- NP480623.RAGcXmEsns9rPlj2Fvyk_rz8vIev6N2LDJhYWpTl8rCXU130_assertion wasGeneratedBy ECO_0000203 NP480623.RAGcXmEsns9rPlj2Fvyk_rz8vIev6N2LDJhYWpTl8rCXU130_provenance.