Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP5863.RAGduMJisnYdEX_ivj5G5T4FOjEB5DTjshQr2p5bxukIw130_assertion> ?p ?o ?g. }
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- NP5863.RAGduMJisnYdEX_ivj5G5T4FOjEB5DTjshQr2p5bxukIw130_assertion type Assertion NP5863.RAGduMJisnYdEX_ivj5G5T4FOjEB5DTjshQr2p5bxukIw130_head.
- NP5863.RAGduMJisnYdEX_ivj5G5T4FOjEB5DTjshQr2p5bxukIw130_assertion wasGeneratedBy ECO_0000218 NP5863.RAGduMJisnYdEX_ivj5G5T4FOjEB5DTjshQr2p5bxukIw130_provenance.
- NP5863.RAGduMJisnYdEX_ivj5G5T4FOjEB5DTjshQr2p5bxukIw130_assertion wasDerivedFrom uniprot-2016 NP5863.RAGduMJisnYdEX_ivj5G5T4FOjEB5DTjshQr2p5bxukIw130_provenance.
- NP5863.RAGduMJisnYdEX_ivj5G5T4FOjEB5DTjshQr2p5bxukIw130_assertion SIO_000772 19603532 NP5863.RAGduMJisnYdEX_ivj5G5T4FOjEB5DTjshQr2p5bxukIw130_provenance.
- NP5863.RAGduMJisnYdEX_ivj5G5T4FOjEB5DTjshQr2p5bxukIw130_assertion evidence source_evidence_curated NP5863.RAGduMJisnYdEX_ivj5G5T4FOjEB5DTjshQr2p5bxukIw130_provenance.
- NP5863.RAGduMJisnYdEX_ivj5G5T4FOjEB5DTjshQr2p5bxukIw130_assertion description "[The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5863.RAGduMJisnYdEX_ivj5G5T4FOjEB5DTjshQr2p5bxukIw130_provenance.