Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP528622.RApOZF-VOqkQ35V1cDFtHSK9-zfbARCBWgCsTVKv6cNqM130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP528622.RApOZF-VOqkQ35V1cDFtHSK9-zfbARCBWgCsTVKv6cNqM130_assertion type Assertion NP528622.RApOZF-VOqkQ35V1cDFtHSK9-zfbARCBWgCsTVKv6cNqM130_head.
- NP528622.RApOZF-VOqkQ35V1cDFtHSK9-zfbARCBWgCsTVKv6cNqM130_assertion description "[A novel mutation in the TTID gene results in the clinical and pathologic phenotype termed spheroid body myopathy. Mutations in this gene also cause limb-girdle muscular dystrophy 1A and are associated with myofibrillar myopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP528622.RApOZF-VOqkQ35V1cDFtHSK9-zfbARCBWgCsTVKv6cNqM130_provenance.
- NP528622.RApOZF-VOqkQ35V1cDFtHSK9-zfbARCBWgCsTVKv6cNqM130_assertion evidence source_evidence_literature NP528622.RApOZF-VOqkQ35V1cDFtHSK9-zfbARCBWgCsTVKv6cNqM130_provenance.
- NP528622.RApOZF-VOqkQ35V1cDFtHSK9-zfbARCBWgCsTVKv6cNqM130_assertion SIO_000772 16380616 NP528622.RApOZF-VOqkQ35V1cDFtHSK9-zfbARCBWgCsTVKv6cNqM130_provenance.
- NP528622.RApOZF-VOqkQ35V1cDFtHSK9-zfbARCBWgCsTVKv6cNqM130_assertion wasDerivedFrom befree-2016 NP528622.RApOZF-VOqkQ35V1cDFtHSK9-zfbARCBWgCsTVKv6cNqM130_provenance.
- NP528622.RApOZF-VOqkQ35V1cDFtHSK9-zfbARCBWgCsTVKv6cNqM130_assertion wasGeneratedBy ECO_0000203 NP528622.RApOZF-VOqkQ35V1cDFtHSK9-zfbARCBWgCsTVKv6cNqM130_provenance.