Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1102524.RAfuYOmKn09hl7kPlQwnPSh9uslPTRePpd45punUw-0Rg130_assertion> ?p ?o ?g. }
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- NP1102524.RAfuYOmKn09hl7kPlQwnPSh9uslPTRePpd45punUw-0Rg130_assertion type Assertion NP1102524.RAfuYOmKn09hl7kPlQwnPSh9uslPTRePpd45punUw-0Rg130_head.
- NP1102524.RAfuYOmKn09hl7kPlQwnPSh9uslPTRePpd45punUw-0Rg130_assertion description "[Mutations in LCA5 are a rare cause of childhood retinal dystrophy accounting for ?2% of disease in this cohort, and the majority of LCA5 mutations are likely null.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1102524.RAfuYOmKn09hl7kPlQwnPSh9uslPTRePpd45punUw-0Rg130_provenance.
- NP1102524.RAfuYOmKn09hl7kPlQwnPSh9uslPTRePpd45punUw-0Rg130_assertion evidence source_evidence_literature NP1102524.RAfuYOmKn09hl7kPlQwnPSh9uslPTRePpd45punUw-0Rg130_provenance.
- NP1102524.RAfuYOmKn09hl7kPlQwnPSh9uslPTRePpd45punUw-0Rg130_assertion SIO_000772 23946133 NP1102524.RAfuYOmKn09hl7kPlQwnPSh9uslPTRePpd45punUw-0Rg130_provenance.
- NP1102524.RAfuYOmKn09hl7kPlQwnPSh9uslPTRePpd45punUw-0Rg130_assertion wasDerivedFrom befree-2016 NP1102524.RAfuYOmKn09hl7kPlQwnPSh9uslPTRePpd45punUw-0Rg130_provenance.
- NP1102524.RAfuYOmKn09hl7kPlQwnPSh9uslPTRePpd45punUw-0Rg130_assertion wasGeneratedBy ECO_0000203 NP1102524.RAfuYOmKn09hl7kPlQwnPSh9uslPTRePpd45punUw-0Rg130_provenance.