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- source_evidence_literature type ECO_0000212 NP641154.RAnfHlind5spGKlXmV-3e52kbr-0Vk5Ow6_B0vOzFrAnU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP641154.RAnfHlind5spGKlXmV-3e52kbr-0Vk5Ow6_B0vOzFrAnU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP641154.RAnfHlind5spGKlXmV-3e52kbr-0Vk5Ow6_B0vOzFrAnU130_provenance.
- NP641154.RAnfHlind5spGKlXmV-3e52kbr-0Vk5Ow6_B0vOzFrAnU130_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." NP641154.RAnfHlind5spGKlXmV-3e52kbr-0Vk5Ow6_B0vOzFrAnU130_provenance.
- NP641154.RAnfHlind5spGKlXmV-3e52kbr-0Vk5Ow6_B0vOzFrAnU130_assertion evidence source_evidence_literature NP641154.RAnfHlind5spGKlXmV-3e52kbr-0Vk5Ow6_B0vOzFrAnU130_provenance.
- NP641154.RAnfHlind5spGKlXmV-3e52kbr-0Vk5Ow6_B0vOzFrAnU130_assertion SIO_000772 18024811 NP641154.RAnfHlind5spGKlXmV-3e52kbr-0Vk5Ow6_B0vOzFrAnU130_provenance.
- NP641154.RAnfHlind5spGKlXmV-3e52kbr-0Vk5Ow6_B0vOzFrAnU130_assertion wasDerivedFrom befree-2016 NP641154.RAnfHlind5spGKlXmV-3e52kbr-0Vk5Ow6_B0vOzFrAnU130_provenance.
- NP641154.RAnfHlind5spGKlXmV-3e52kbr-0Vk5Ow6_B0vOzFrAnU130_assertion wasGeneratedBy ECO_0000203 NP641154.RAnfHlind5spGKlXmV-3e52kbr-0Vk5Ow6_B0vOzFrAnU130_provenance.
- befree-2016 importedOn "2016-02-19" NP641154.RAnfHlind5spGKlXmV-3e52kbr-0Vk5Ow6_B0vOzFrAnU130_provenance.