Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1053314.RAX-AwD007YTNrIyQhUP5pyGgqPo8NwgETQJPKaECNUYs130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP1053314.RAX-AwD007YTNrIyQhUP5pyGgqPo8NwgETQJPKaECNUYs130_assertion type Assertion NP1053314.RAX-AwD007YTNrIyQhUP5pyGgqPo8NwgETQJPKaECNUYs130_head.
- NP1053314.RAX-AwD007YTNrIyQhUP5pyGgqPo8NwgETQJPKaECNUYs130_assertion description "[The second phenotype, observed in four unrelated families, is autosomal dominant trismus-pseudocamptodactyly syndrome (distal arthrogryposis type 7; previously associated exclusively with myosin heavy chain 8 mutations).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1053314.RAX-AwD007YTNrIyQhUP5pyGgqPo8NwgETQJPKaECNUYs130_provenance.
- NP1053314.RAX-AwD007YTNrIyQhUP5pyGgqPo8NwgETQJPKaECNUYs130_assertion evidence source_evidence_literature NP1053314.RAX-AwD007YTNrIyQhUP5pyGgqPo8NwgETQJPKaECNUYs130_provenance.
- NP1053314.RAX-AwD007YTNrIyQhUP5pyGgqPo8NwgETQJPKaECNUYs130_assertion SIO_000772 23413262 NP1053314.RAX-AwD007YTNrIyQhUP5pyGgqPo8NwgETQJPKaECNUYs130_provenance.
- NP1053314.RAX-AwD007YTNrIyQhUP5pyGgqPo8NwgETQJPKaECNUYs130_assertion wasDerivedFrom befree-2016 NP1053314.RAX-AwD007YTNrIyQhUP5pyGgqPo8NwgETQJPKaECNUYs130_provenance.
- NP1053314.RAX-AwD007YTNrIyQhUP5pyGgqPo8NwgETQJPKaECNUYs130_assertion wasGeneratedBy ECO_0000203 NP1053314.RAX-AwD007YTNrIyQhUP5pyGgqPo8NwgETQJPKaECNUYs130_provenance.