Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP8462.RA_0YXwdWMxmXYYSv5bqh4B0b_8b5v2Yy56PyBvr1qixA130_assertion> ?p ?o ?g. }
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- NP8462.RA_0YXwdWMxmXYYSv5bqh4B0b_8b5v2Yy56PyBvr1qixA130_assertion type Assertion NP8462.RA_0YXwdWMxmXYYSv5bqh4B0b_8b5v2Yy56PyBvr1qixA130_head.
- NP8462.RA_0YXwdWMxmXYYSv5bqh4B0b_8b5v2Yy56PyBvr1qixA130_assertion description "[The disruptive nature of two mutations (i.e., the frameshift and the nonsense mutation) in patients with biochemically proved childhood ALD and AMN further strongly supports the hypothesis that alterations in this gene play a crucial role in the pathogenesis of X-ALD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP8462.RA_0YXwdWMxmXYYSv5bqh4B0b_8b5v2Yy56PyBvr1qixA130_provenance.
- NP8462.RA_0YXwdWMxmXYYSv5bqh4B0b_8b5v2Yy56PyBvr1qixA130_assertion evidence source_evidence_curated NP8462.RA_0YXwdWMxmXYYSv5bqh4B0b_8b5v2Yy56PyBvr1qixA130_provenance.
- NP8462.RA_0YXwdWMxmXYYSv5bqh4B0b_8b5v2Yy56PyBvr1qixA130_assertion SIO_000772 7717396 NP8462.RA_0YXwdWMxmXYYSv5bqh4B0b_8b5v2Yy56PyBvr1qixA130_provenance.
- NP8462.RA_0YXwdWMxmXYYSv5bqh4B0b_8b5v2Yy56PyBvr1qixA130_assertion wasDerivedFrom uniprot-2016 NP8462.RA_0YXwdWMxmXYYSv5bqh4B0b_8b5v2Yy56PyBvr1qixA130_provenance.
- NP8462.RA_0YXwdWMxmXYYSv5bqh4B0b_8b5v2Yy56PyBvr1qixA130_assertion wasGeneratedBy ECO_0000218 NP8462.RA_0YXwdWMxmXYYSv5bqh4B0b_8b5v2Yy56PyBvr1qixA130_provenance.