Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP218936.RAkkeaN7un4JnAUHby2Rt-bxGU7xsv1MVT0ZnJK1U8H9Y130_assertion> ?p ?o ?g. }
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- NP218936.RAkkeaN7un4JnAUHby2Rt-bxGU7xsv1MVT0ZnJK1U8H9Y130_assertion type Assertion NP218936.RAkkeaN7un4JnAUHby2Rt-bxGU7xsv1MVT0ZnJK1U8H9Y130_head.
- NP218936.RAkkeaN7un4JnAUHby2Rt-bxGU7xsv1MVT0ZnJK1U8H9Y130_assertion description "[Three patients had a Gly1961Glu missense mutation, the most common variant in Stargardt disease (STGD), with 2 of these subjects having a macular dystrophy (MD) phenotype and a second ABCA4 variant previously associated with STGD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP218936.RAkkeaN7un4JnAUHby2Rt-bxGU7xsv1MVT0ZnJK1U8H9Y130_provenance.
- NP218936.RAkkeaN7un4JnAUHby2Rt-bxGU7xsv1MVT0ZnJK1U8H9Y130_assertion evidence source_evidence_literature NP218936.RAkkeaN7un4JnAUHby2Rt-bxGU7xsv1MVT0ZnJK1U8H9Y130_provenance.
- NP218936.RAkkeaN7un4JnAUHby2Rt-bxGU7xsv1MVT0ZnJK1U8H9Y130_assertion SIO_000772 18024811 NP218936.RAkkeaN7un4JnAUHby2Rt-bxGU7xsv1MVT0ZnJK1U8H9Y130_provenance.
- NP218936.RAkkeaN7un4JnAUHby2Rt-bxGU7xsv1MVT0ZnJK1U8H9Y130_assertion wasDerivedFrom befree-20150227 NP218936.RAkkeaN7un4JnAUHby2Rt-bxGU7xsv1MVT0ZnJK1U8H9Y130_provenance.
- NP218936.RAkkeaN7un4JnAUHby2Rt-bxGU7xsv1MVT0ZnJK1U8H9Y130_assertion wasGeneratedBy ECO_0000203 NP218936.RAkkeaN7un4JnAUHby2Rt-bxGU7xsv1MVT0ZnJK1U8H9Y130_provenance.