Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP20621.RAleUDrKrluXqpyVnqBp7gQIXsl6uL7rIPSvkK0rWi7xM130_assertion> ?p ?o ?g. }
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- NP20621.RAleUDrKrluXqpyVnqBp7gQIXsl6uL7rIPSvkK0rWi7xM130_assertion type Assertion NP20621.RAleUDrKrluXqpyVnqBp7gQIXsl6uL7rIPSvkK0rWi7xM130_head.
- NP20621.RAleUDrKrluXqpyVnqBp7gQIXsl6uL7rIPSvkK0rWi7xM130_assertion description "[All four mutations lie within conserved regions of the gene and cause translational frameshifts, resulting in gross alterations of the protein product Patients with cytogenetically detectable deletions including JAG1 have Alagille syndrome, supporting the hypothesis that haploinsufficiency for this gene is one of the mechanisms causing the Alagille syndrome phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP20621.RAleUDrKrluXqpyVnqBp7gQIXsl6uL7rIPSvkK0rWi7xM130_provenance.
- NP20621.RAleUDrKrluXqpyVnqBp7gQIXsl6uL7rIPSvkK0rWi7xM130_assertion evidence source_evidence_curated NP20621.RAleUDrKrluXqpyVnqBp7gQIXsl6uL7rIPSvkK0rWi7xM130_provenance.
- NP20621.RAleUDrKrluXqpyVnqBp7gQIXsl6uL7rIPSvkK0rWi7xM130_assertion SIO_000772 9207788 NP20621.RAleUDrKrluXqpyVnqBp7gQIXsl6uL7rIPSvkK0rWi7xM130_provenance.
- NP20621.RAleUDrKrluXqpyVnqBp7gQIXsl6uL7rIPSvkK0rWi7xM130_assertion wasDerivedFrom ctd_human-20130708 NP20621.RAleUDrKrluXqpyVnqBp7gQIXsl6uL7rIPSvkK0rWi7xM130_provenance.
- NP20621.RAleUDrKrluXqpyVnqBp7gQIXsl6uL7rIPSvkK0rWi7xM130_assertion wasGeneratedBy ECO_0000218 NP20621.RAleUDrKrluXqpyVnqBp7gQIXsl6uL7rIPSvkK0rWi7xM130_provenance.