Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP49873.RASIRX2WuMZf-QSv-M7HIAPYvJiVyDf1o2EaJCYqisJdw130_assertion> ?p ?o ?g. }
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- NP49873.RASIRX2WuMZf-QSv-M7HIAPYvJiVyDf1o2EaJCYqisJdw130_assertion type Assertion NP49873.RASIRX2WuMZf-QSv-M7HIAPYvJiVyDf1o2EaJCYqisJdw130_head.
- NP49873.RASIRX2WuMZf-QSv-M7HIAPYvJiVyDf1o2EaJCYqisJdw130_assertion description "[A homozygous protein-truncating mutation in ABCA4 can cause a phenotype ranging from STGD to CRD as diagnosed at an early stage of the disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP49873.RASIRX2WuMZf-QSv-M7HIAPYvJiVyDf1o2EaJCYqisJdw130_provenance.
- NP49873.RASIRX2WuMZf-QSv-M7HIAPYvJiVyDf1o2EaJCYqisJdw130_assertion evidence source_evidence_literature NP49873.RASIRX2WuMZf-QSv-M7HIAPYvJiVyDf1o2EaJCYqisJdw130_provenance.
- NP49873.RASIRX2WuMZf-QSv-M7HIAPYvJiVyDf1o2EaJCYqisJdw130_assertion SIO_000772 15017103 NP49873.RASIRX2WuMZf-QSv-M7HIAPYvJiVyDf1o2EaJCYqisJdw130_provenance.
- NP49873.RASIRX2WuMZf-QSv-M7HIAPYvJiVyDf1o2EaJCYqisJdw130_assertion wasDerivedFrom gad-20130706 NP49873.RASIRX2WuMZf-QSv-M7HIAPYvJiVyDf1o2EaJCYqisJdw130_provenance.
- NP49873.RASIRX2WuMZf-QSv-M7HIAPYvJiVyDf1o2EaJCYqisJdw130_assertion wasGeneratedBy ECO_0000203 NP49873.RASIRX2WuMZf-QSv-M7HIAPYvJiVyDf1o2EaJCYqisJdw130_provenance.