Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP499171.RA0i8eNgYdMX9VC9u5I7LM8TnpouMXC6HV0XxxGxBba-M130_assertion> ?p ?o ?g. }
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- NP499171.RA0i8eNgYdMX9VC9u5I7LM8TnpouMXC6HV0XxxGxBba-M130_assertion type Assertion NP499171.RA0i8eNgYdMX9VC9u5I7LM8TnpouMXC6HV0XxxGxBba-M130_head.
- NP499171.RA0i8eNgYdMX9VC9u5I7LM8TnpouMXC6HV0XxxGxBba-M130_assertion description "[Mutation of acceptor splice site of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda causes the activation of cryptic splice site.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP499171.RA0i8eNgYdMX9VC9u5I7LM8TnpouMXC6HV0XxxGxBba-M130_provenance.
- NP499171.RA0i8eNgYdMX9VC9u5I7LM8TnpouMXC6HV0XxxGxBba-M130_assertion evidence source_evidence_literature NP499171.RA0i8eNgYdMX9VC9u5I7LM8TnpouMXC6HV0XxxGxBba-M130_provenance.
- NP499171.RA0i8eNgYdMX9VC9u5I7LM8TnpouMXC6HV0XxxGxBba-M130_assertion SIO_000772 15952107 NP499171.RA0i8eNgYdMX9VC9u5I7LM8TnpouMXC6HV0XxxGxBba-M130_provenance.
- NP499171.RA0i8eNgYdMX9VC9u5I7LM8TnpouMXC6HV0XxxGxBba-M130_assertion wasDerivedFrom befree-2016 NP499171.RA0i8eNgYdMX9VC9u5I7LM8TnpouMXC6HV0XxxGxBba-M130_provenance.
- NP499171.RA0i8eNgYdMX9VC9u5I7LM8TnpouMXC6HV0XxxGxBba-M130_assertion wasGeneratedBy ECO_0000203 NP499171.RA0i8eNgYdMX9VC9u5I7LM8TnpouMXC6HV0XxxGxBba-M130_provenance.