Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP529612.RACeSsd7A6upQorcWug-qjZZHcWTBub9a_yqRi7Ok3fks130_assertion> ?p ?o ?g. }
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- NP529612.RACeSsd7A6upQorcWug-qjZZHcWTBub9a_yqRi7Ok3fks130_assertion type Assertion NP529612.RACeSsd7A6upQorcWug-qjZZHcWTBub9a_yqRi7Ok3fks130_head.
- NP529612.RACeSsd7A6upQorcWug-qjZZHcWTBub9a_yqRi7Ok3fks130_assertion wasGeneratedBy ECO_0000203 NP529612.RACeSsd7A6upQorcWug-qjZZHcWTBub9a_yqRi7Ok3fks130_provenance.
- NP529612.RACeSsd7A6upQorcWug-qjZZHcWTBub9a_yqRi7Ok3fks130_assertion wasDerivedFrom befree-2016 NP529612.RACeSsd7A6upQorcWug-qjZZHcWTBub9a_yqRi7Ok3fks130_provenance.
- NP529612.RACeSsd7A6upQorcWug-qjZZHcWTBub9a_yqRi7Ok3fks130_assertion SIO_000772 16394881 NP529612.RACeSsd7A6upQorcWug-qjZZHcWTBub9a_yqRi7Ok3fks130_provenance.
- NP529612.RACeSsd7A6upQorcWug-qjZZHcWTBub9a_yqRi7Ok3fks130_assertion evidence source_evidence_literature NP529612.RACeSsd7A6upQorcWug-qjZZHcWTBub9a_yqRi7Ok3fks130_provenance.
- NP529612.RACeSsd7A6upQorcWug-qjZZHcWTBub9a_yqRi7Ok3fks130_assertion description "[It is concluded that this form of compound heterozygosity of the BSEP gene reduces the amount of BSEP protein due to protein instability or mis-targeting, which is the underlying reason for reduced bile salt excretion and cholemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP529612.RACeSsd7A6upQorcWug-qjZZHcWTBub9a_yqRi7Ok3fks130_provenance.