Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP804158.RAREwgAYkU9SzHp_DDVyEp-CGtOR91ZLvR-KsH6K6_ggo130_assertion> ?p ?o ?g. }
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- NP804158.RAREwgAYkU9SzHp_DDVyEp-CGtOR91ZLvR-KsH6K6_ggo130_assertion type Assertion NP804158.RAREwgAYkU9SzHp_DDVyEp-CGtOR91ZLvR-KsH6K6_ggo130_head.
- NP804158.RAREwgAYkU9SzHp_DDVyEp-CGtOR91ZLvR-KsH6K6_ggo130_assertion description "[Heterozygous mutations in BEST1 have previously been found to cause the two dominantly inherited disorders, Best macular dystrophy and autosomal-dominant vitreoretinochoroidopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP804158.RAREwgAYkU9SzHp_DDVyEp-CGtOR91ZLvR-KsH6K6_ggo130_provenance.
- NP804158.RAREwgAYkU9SzHp_DDVyEp-CGtOR91ZLvR-KsH6K6_ggo130_assertion evidence source_evidence_literature NP804158.RAREwgAYkU9SzHp_DDVyEp-CGtOR91ZLvR-KsH6K6_ggo130_provenance.
- NP804158.RAREwgAYkU9SzHp_DDVyEp-CGtOR91ZLvR-KsH6K6_ggo130_assertion SIO_000772 18179881 NP804158.RAREwgAYkU9SzHp_DDVyEp-CGtOR91ZLvR-KsH6K6_ggo130_provenance.
- NP804158.RAREwgAYkU9SzHp_DDVyEp-CGtOR91ZLvR-KsH6K6_ggo130_assertion wasDerivedFrom befree-20140225 NP804158.RAREwgAYkU9SzHp_DDVyEp-CGtOR91ZLvR-KsH6K6_ggo130_provenance.
- NP804158.RAREwgAYkU9SzHp_DDVyEp-CGtOR91ZLvR-KsH6K6_ggo130_assertion wasGeneratedBy ECO_0000203 NP804158.RAREwgAYkU9SzHp_DDVyEp-CGtOR91ZLvR-KsH6K6_ggo130_provenance.