Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP204763.RASEboDz5t6vCIjJk2Ye4OMsdCcrUO1QL3mm923zypHqM130_assertion> ?p ?o ?g. }
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- NP204763.RASEboDz5t6vCIjJk2Ye4OMsdCcrUO1QL3mm923zypHqM130_assertion type Assertion NP204763.RASEboDz5t6vCIjJk2Ye4OMsdCcrUO1QL3mm923zypHqM130_head.
- NP204763.RASEboDz5t6vCIjJk2Ye4OMsdCcrUO1QL3mm923zypHqM130_assertion description "[Mutations in myotilin cause MFM; exon 2 of MYOT is a hotspot for mutations; peripheral neuropathy, cardiomyopathy, and distal weakness greater than proximal weakness are part of the spectrum of myotilinopathy; not all cases have a limb-girdle phenotype ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP204763.RASEboDz5t6vCIjJk2Ye4OMsdCcrUO1QL3mm923zypHqM130_provenance.
- NP204763.RASEboDz5t6vCIjJk2Ye4OMsdCcrUO1QL3mm923zypHqM130_assertion evidence source_evidence_literature NP204763.RASEboDz5t6vCIjJk2Ye4OMsdCcrUO1QL3mm923zypHqM130_provenance.
- NP204763.RASEboDz5t6vCIjJk2Ye4OMsdCcrUO1QL3mm923zypHqM130_assertion SIO_000772 15111675 NP204763.RASEboDz5t6vCIjJk2Ye4OMsdCcrUO1QL3mm923zypHqM130_provenance.
- NP204763.RASEboDz5t6vCIjJk2Ye4OMsdCcrUO1QL3mm923zypHqM130_assertion wasDerivedFrom lhgdn-20090331 NP204763.RASEboDz5t6vCIjJk2Ye4OMsdCcrUO1QL3mm923zypHqM130_provenance.
- NP204763.RASEboDz5t6vCIjJk2Ye4OMsdCcrUO1QL3mm923zypHqM130_assertion wasGeneratedBy ECO_0000203 NP204763.RASEboDz5t6vCIjJk2Ye4OMsdCcrUO1QL3mm923zypHqM130_provenance.