Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP422606.RAyVajCl4j_izORqqyAclEffVh4AQydyX6Hny_eDNCMTg130_assertion> ?p ?o ?g. }
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- NP422606.RAyVajCl4j_izORqqyAclEffVh4AQydyX6Hny_eDNCMTg130_assertion type Assertion NP422606.RAyVajCl4j_izORqqyAclEffVh4AQydyX6Hny_eDNCMTg130_head.
- NP422606.RAyVajCl4j_izORqqyAclEffVh4AQydyX6Hny_eDNCMTg130_assertion description "[A homozygous R769Q mutation in the calpain-3 gene and absence of muscle calpain-3 protein confirmed a calpainopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP422606.RAyVajCl4j_izORqqyAclEffVh4AQydyX6Hny_eDNCMTg130_provenance.
- NP422606.RAyVajCl4j_izORqqyAclEffVh4AQydyX6Hny_eDNCMTg130_assertion evidence source_evidence_literature NP422606.RAyVajCl4j_izORqqyAclEffVh4AQydyX6Hny_eDNCMTg130_provenance.
- NP422606.RAyVajCl4j_izORqqyAclEffVh4AQydyX6Hny_eDNCMTg130_assertion SIO_000772 14645990 NP422606.RAyVajCl4j_izORqqyAclEffVh4AQydyX6Hny_eDNCMTg130_provenance.
- NP422606.RAyVajCl4j_izORqqyAclEffVh4AQydyX6Hny_eDNCMTg130_assertion wasDerivedFrom befree-2016 NP422606.RAyVajCl4j_izORqqyAclEffVh4AQydyX6Hny_eDNCMTg130_provenance.
- NP422606.RAyVajCl4j_izORqqyAclEffVh4AQydyX6Hny_eDNCMTg130_assertion wasGeneratedBy ECO_0000203 NP422606.RAyVajCl4j_izORqqyAclEffVh4AQydyX6Hny_eDNCMTg130_provenance.