Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP9547.RASQoMOH5UdVskDgINUr0rj2w0NMomDYkCUGrBGMM53KI130_assertion> ?p ?o ?g. }
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- NP9547.RASQoMOH5UdVskDgINUr0rj2w0NMomDYkCUGrBGMM53KI130_assertion type Assertion NP9547.RASQoMOH5UdVskDgINUr0rj2w0NMomDYkCUGrBGMM53KI130_head.
- NP9547.RASQoMOH5UdVskDgINUr0rj2w0NMomDYkCUGrBGMM53KI130_assertion description "[Loss-of-function mutations in the G4.5 gene have been shown to cause Barth syndrome (BTHS), an X-linked disorder characterized by cardiac and skeletal myopathy, short stature, and neutropenia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP9547.RASQoMOH5UdVskDgINUr0rj2w0NMomDYkCUGrBGMM53KI130_provenance.
- NP9547.RASQoMOH5UdVskDgINUr0rj2w0NMomDYkCUGrBGMM53KI130_assertion evidence source_evidence_curated NP9547.RASQoMOH5UdVskDgINUr0rj2w0NMomDYkCUGrBGMM53KI130_provenance.
- NP9547.RASQoMOH5UdVskDgINUr0rj2w0NMomDYkCUGrBGMM53KI130_assertion SIO_000772 9382097 NP9547.RASQoMOH5UdVskDgINUr0rj2w0NMomDYkCUGrBGMM53KI130_provenance.
- NP9547.RASQoMOH5UdVskDgINUr0rj2w0NMomDYkCUGrBGMM53KI130_assertion wasDerivedFrom uniprot-2016 NP9547.RASQoMOH5UdVskDgINUr0rj2w0NMomDYkCUGrBGMM53KI130_provenance.
- NP9547.RASQoMOH5UdVskDgINUr0rj2w0NMomDYkCUGrBGMM53KI130_assertion wasGeneratedBy ECO_0000218 NP9547.RASQoMOH5UdVskDgINUr0rj2w0NMomDYkCUGrBGMM53KI130_provenance.