Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP262079.RAN_aNcUj9LRjKkDA3oFdiPCytyKiyJa5K__3gD4dSY1Q130_assertion> ?p ?o ?g. }
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- NP262079.RAN_aNcUj9LRjKkDA3oFdiPCytyKiyJa5K__3gD4dSY1Q130_assertion type Assertion NP262079.RAN_aNcUj9LRjKkDA3oFdiPCytyKiyJa5K__3gD4dSY1Q130_head.
- NP262079.RAN_aNcUj9LRjKkDA3oFdiPCytyKiyJa5K__3gD4dSY1Q130_assertion description "[Mutations in the JAGGED1 gene are responsible for the Alagille syndrome, an autosomal dominant disorder characterized by neonatal jaundice, intrahepatic cholestasis, and developmental disorders affecting the liver, heart, vertebrae, eyes, and face.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP262079.RAN_aNcUj9LRjKkDA3oFdiPCytyKiyJa5K__3gD4dSY1Q130_provenance.
- NP262079.RAN_aNcUj9LRjKkDA3oFdiPCytyKiyJa5K__3gD4dSY1Q130_assertion evidence source_evidence_literature NP262079.RAN_aNcUj9LRjKkDA3oFdiPCytyKiyJa5K__3gD4dSY1Q130_provenance.
- NP262079.RAN_aNcUj9LRjKkDA3oFdiPCytyKiyJa5K__3gD4dSY1Q130_assertion SIO_000772 10220506 NP262079.RAN_aNcUj9LRjKkDA3oFdiPCytyKiyJa5K__3gD4dSY1Q130_provenance.
- NP262079.RAN_aNcUj9LRjKkDA3oFdiPCytyKiyJa5K__3gD4dSY1Q130_assertion wasDerivedFrom befree-20140225 NP262079.RAN_aNcUj9LRjKkDA3oFdiPCytyKiyJa5K__3gD4dSY1Q130_provenance.
- NP262079.RAN_aNcUj9LRjKkDA3oFdiPCytyKiyJa5K__3gD4dSY1Q130_assertion wasGeneratedBy ECO_0000203 NP262079.RAN_aNcUj9LRjKkDA3oFdiPCytyKiyJa5K__3gD4dSY1Q130_provenance.