Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP300017.RAxPUh43MJ8pcZ6-fnPhVA2p-3FfGOGvZyLdE-YBPYRCQ130_assertion> ?p ?o ?g. }
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- NP300017.RAxPUh43MJ8pcZ6-fnPhVA2p-3FfGOGvZyLdE-YBPYRCQ130_assertion type Assertion NP300017.RAxPUh43MJ8pcZ6-fnPhVA2p-3FfGOGvZyLdE-YBPYRCQ130_head.
- NP300017.RAxPUh43MJ8pcZ6-fnPhVA2p-3FfGOGvZyLdE-YBPYRCQ130_assertion description "[We identified 2 splice site mutations in the CDH3 gene leading to HJMD, further enriching our understanding of HJMD versus ectodermal dysplasia, ectrodactyly and macular dystrophy syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP300017.RAxPUh43MJ8pcZ6-fnPhVA2p-3FfGOGvZyLdE-YBPYRCQ130_provenance.
- NP300017.RAxPUh43MJ8pcZ6-fnPhVA2p-3FfGOGvZyLdE-YBPYRCQ130_assertion evidence source_evidence_literature NP300017.RAxPUh43MJ8pcZ6-fnPhVA2p-3FfGOGvZyLdE-YBPYRCQ130_provenance.
- NP300017.RAxPUh43MJ8pcZ6-fnPhVA2p-3FfGOGvZyLdE-YBPYRCQ130_assertion SIO_000772 20203473 NP300017.RAxPUh43MJ8pcZ6-fnPhVA2p-3FfGOGvZyLdE-YBPYRCQ130_provenance.
- NP300017.RAxPUh43MJ8pcZ6-fnPhVA2p-3FfGOGvZyLdE-YBPYRCQ130_assertion wasDerivedFrom befree-20150227 NP300017.RAxPUh43MJ8pcZ6-fnPhVA2p-3FfGOGvZyLdE-YBPYRCQ130_provenance.
- NP300017.RAxPUh43MJ8pcZ6-fnPhVA2p-3FfGOGvZyLdE-YBPYRCQ130_assertion wasGeneratedBy ECO_0000203 NP300017.RAxPUh43MJ8pcZ6-fnPhVA2p-3FfGOGvZyLdE-YBPYRCQ130_provenance.