Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP299986.RAXnm-ulX1uVKN6PVekdLEe0budA2F0ngE8s80OAY1CNE130_assertion> ?p ?o ?g. }
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- NP299986.RAXnm-ulX1uVKN6PVekdLEe0budA2F0ngE8s80OAY1CNE130_assertion type Assertion NP299986.RAXnm-ulX1uVKN6PVekdLEe0budA2F0ngE8s80OAY1CNE130_head.
- NP299986.RAXnm-ulX1uVKN6PVekdLEe0budA2F0ngE8s80OAY1CNE130_assertion description "[A novel splice-acceptor site mutation in CDH3 gene in a consanguineous family exhibiting hypotrichosis with juvenile macular dystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP299986.RAXnm-ulX1uVKN6PVekdLEe0budA2F0ngE8s80OAY1CNE130_provenance.
- NP299986.RAXnm-ulX1uVKN6PVekdLEe0budA2F0ngE8s80OAY1CNE130_assertion evidence source_evidence_literature NP299986.RAXnm-ulX1uVKN6PVekdLEe0budA2F0ngE8s80OAY1CNE130_provenance.
- NP299986.RAXnm-ulX1uVKN6PVekdLEe0budA2F0ngE8s80OAY1CNE130_assertion SIO_000772 20140736 NP299986.RAXnm-ulX1uVKN6PVekdLEe0budA2F0ngE8s80OAY1CNE130_provenance.
- NP299986.RAXnm-ulX1uVKN6PVekdLEe0budA2F0ngE8s80OAY1CNE130_assertion wasDerivedFrom befree-20150227 NP299986.RAXnm-ulX1uVKN6PVekdLEe0budA2F0ngE8s80OAY1CNE130_provenance.
- NP299986.RAXnm-ulX1uVKN6PVekdLEe0budA2F0ngE8s80OAY1CNE130_assertion wasGeneratedBy ECO_0000203 NP299986.RAXnm-ulX1uVKN6PVekdLEe0budA2F0ngE8s80OAY1CNE130_provenance.