Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP147.RArlGGufCHh8x_I5pfqrliMqw-u50JHV1pewEmszcQi0c130_assertion> ?p ?o ?g. }
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- NP147.RArlGGufCHh8x_I5pfqrliMqw-u50JHV1pewEmszcQi0c130_assertion type Assertion NP147.RArlGGufCHh8x_I5pfqrliMqw-u50JHV1pewEmszcQi0c130_head.
- NP147.RArlGGufCHh8x_I5pfqrliMqw-u50JHV1pewEmszcQi0c130_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." NP147.RArlGGufCHh8x_I5pfqrliMqw-u50JHV1pewEmszcQi0c130_provenance.
- NP147.RArlGGufCHh8x_I5pfqrliMqw-u50JHV1pewEmszcQi0c130_assertion evidence source_evidence_curated NP147.RArlGGufCHh8x_I5pfqrliMqw-u50JHV1pewEmszcQi0c130_provenance.
- NP147.RArlGGufCHh8x_I5pfqrliMqw-u50JHV1pewEmszcQi0c130_assertion SIO_000772 11166164 NP147.RArlGGufCHh8x_I5pfqrliMqw-u50JHV1pewEmszcQi0c130_provenance.
- NP147.RArlGGufCHh8x_I5pfqrliMqw-u50JHV1pewEmszcQi0c130_assertion wasDerivedFrom uniprot-20130724 NP147.RArlGGufCHh8x_I5pfqrliMqw-u50JHV1pewEmszcQi0c130_provenance.
- NP147.RArlGGufCHh8x_I5pfqrliMqw-u50JHV1pewEmszcQi0c130_assertion wasGeneratedBy ECO_0000218 NP147.RArlGGufCHh8x_I5pfqrliMqw-u50JHV1pewEmszcQi0c130_provenance.