Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP193752.RAOxF9WXi5nQLSZfNwfiD2rhNlvYMSWnTsCpStC7KZy3s130_assertion> ?p ?o ?g. }
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- NP193752.RAOxF9WXi5nQLSZfNwfiD2rhNlvYMSWnTsCpStC7KZy3s130_assertion type Assertion NP193752.RAOxF9WXi5nQLSZfNwfiD2rhNlvYMSWnTsCpStC7KZy3s130_head.
- NP193752.RAOxF9WXi5nQLSZfNwfiD2rhNlvYMSWnTsCpStC7KZy3s130_assertion description "[Two siblings heterozygous for the mutations A460V and V572L/sibs had Nonaka myopathy (OMIM 605820).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP193752.RAOxF9WXi5nQLSZfNwfiD2rhNlvYMSWnTsCpStC7KZy3s130_provenance.
- NP193752.RAOxF9WXi5nQLSZfNwfiD2rhNlvYMSWnTsCpStC7KZy3s130_assertion evidence source_evidence_literature NP193752.RAOxF9WXi5nQLSZfNwfiD2rhNlvYMSWnTsCpStC7KZy3s130_provenance.
- NP193752.RAOxF9WXi5nQLSZfNwfiD2rhNlvYMSWnTsCpStC7KZy3s130_assertion SIO_000772 11916006 NP193752.RAOxF9WXi5nQLSZfNwfiD2rhNlvYMSWnTsCpStC7KZy3s130_provenance.
- NP193752.RAOxF9WXi5nQLSZfNwfiD2rhNlvYMSWnTsCpStC7KZy3s130_assertion wasDerivedFrom lhgdn-20090331 NP193752.RAOxF9WXi5nQLSZfNwfiD2rhNlvYMSWnTsCpStC7KZy3s130_provenance.
- NP193752.RAOxF9WXi5nQLSZfNwfiD2rhNlvYMSWnTsCpStC7KZy3s130_assertion wasGeneratedBy ECO_0000203 NP193752.RAOxF9WXi5nQLSZfNwfiD2rhNlvYMSWnTsCpStC7KZy3s130_provenance.