Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP942849.RAboze0DAWd6n9DF-axXqRvQ37t5kRvpvnfEuupNaAobI130_assertion> ?p ?o ?g. }
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- NP942849.RAboze0DAWd6n9DF-axXqRvQ37t5kRvpvnfEuupNaAobI130_assertion type Assertion NP942849.RAboze0DAWd6n9DF-axXqRvQ37t5kRvpvnfEuupNaAobI130_head.
- NP942849.RAboze0DAWd6n9DF-axXqRvQ37t5kRvpvnfEuupNaAobI130_assertion description "[A case study has shown that mutations in the fatty-acid 2-hydroxylase gene may lead to various phenotypes combining the features of leukodystrophy and NBIA, supporting that abnormal metabolism of myelin and iron accumulation may have a common cause.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP942849.RAboze0DAWd6n9DF-axXqRvQ37t5kRvpvnfEuupNaAobI130_provenance.
- NP942849.RAboze0DAWd6n9DF-axXqRvQ37t5kRvpvnfEuupNaAobI130_assertion evidence source_evidence_literature NP942849.RAboze0DAWd6n9DF-axXqRvQ37t5kRvpvnfEuupNaAobI130_provenance.
- NP942849.RAboze0DAWd6n9DF-axXqRvQ37t5kRvpvnfEuupNaAobI130_assertion SIO_000772 22691760 NP942849.RAboze0DAWd6n9DF-axXqRvQ37t5kRvpvnfEuupNaAobI130_provenance.
- NP942849.RAboze0DAWd6n9DF-axXqRvQ37t5kRvpvnfEuupNaAobI130_assertion wasDerivedFrom befree-20150227 NP942849.RAboze0DAWd6n9DF-axXqRvQ37t5kRvpvnfEuupNaAobI130_provenance.
- NP942849.RAboze0DAWd6n9DF-axXqRvQ37t5kRvpvnfEuupNaAobI130_assertion wasGeneratedBy ECO_0000203 NP942849.RAboze0DAWd6n9DF-axXqRvQ37t5kRvpvnfEuupNaAobI130_provenance.