Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1232.RAXwN85Eu_7m_SWAgOK8gs6CfGmorBivp4m_fJy5COmYE130_assertion> ?p ?o ?g. }
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- NP1232.RAXwN85Eu_7m_SWAgOK8gs6CfGmorBivp4m_fJy5COmYE130_assertion type Assertion NP1232.RAXwN85Eu_7m_SWAgOK8gs6CfGmorBivp4m_fJy5COmYE130_head.
- NP1232.RAXwN85Eu_7m_SWAgOK8gs6CfGmorBivp4m_fJy5COmYE130_assertion description "[Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1232.RAXwN85Eu_7m_SWAgOK8gs6CfGmorBivp4m_fJy5COmYE130_provenance.
- NP1232.RAXwN85Eu_7m_SWAgOK8gs6CfGmorBivp4m_fJy5COmYE130_assertion evidence source_evidence_curated NP1232.RAXwN85Eu_7m_SWAgOK8gs6CfGmorBivp4m_fJy5COmYE130_provenance.
- NP1232.RAXwN85Eu_7m_SWAgOK8gs6CfGmorBivp4m_fJy5COmYE130_assertion SIO_000772 11166164 NP1232.RAXwN85Eu_7m_SWAgOK8gs6CfGmorBivp4m_fJy5COmYE130_provenance.
- NP1232.RAXwN85Eu_7m_SWAgOK8gs6CfGmorBivp4m_fJy5COmYE130_assertion wasDerivedFrom uniprot-2016 NP1232.RAXwN85Eu_7m_SWAgOK8gs6CfGmorBivp4m_fJy5COmYE130_provenance.
- NP1232.RAXwN85Eu_7m_SWAgOK8gs6CfGmorBivp4m_fJy5COmYE130_assertion wasGeneratedBy ECO_0000218 NP1232.RAXwN85Eu_7m_SWAgOK8gs6CfGmorBivp4m_fJy5COmYE130_provenance.