Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP207828.RA0saRBXKMkywjCScwsUCA4LyJte7zd40DSe0NLZtQDTw130_assertion> ?p ?o ?g. }
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- NP207828.RA0saRBXKMkywjCScwsUCA4LyJte7zd40DSe0NLZtQDTw130_assertion type Assertion NP207828.RA0saRBXKMkywjCScwsUCA4LyJte7zd40DSe0NLZtQDTw130_head.
- NP207828.RA0saRBXKMkywjCScwsUCA4LyJte7zd40DSe0NLZtQDTw130_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." NP207828.RA0saRBXKMkywjCScwsUCA4LyJte7zd40DSe0NLZtQDTw130_provenance.
- NP207828.RA0saRBXKMkywjCScwsUCA4LyJte7zd40DSe0NLZtQDTw130_assertion evidence source_evidence_literature NP207828.RA0saRBXKMkywjCScwsUCA4LyJte7zd40DSe0NLZtQDTw130_provenance.
- NP207828.RA0saRBXKMkywjCScwsUCA4LyJte7zd40DSe0NLZtQDTw130_assertion SIO_000772 15111675 NP207828.RA0saRBXKMkywjCScwsUCA4LyJte7zd40DSe0NLZtQDTw130_provenance.
- NP207828.RA0saRBXKMkywjCScwsUCA4LyJte7zd40DSe0NLZtQDTw130_assertion wasDerivedFrom lhgdn-20090331 NP207828.RA0saRBXKMkywjCScwsUCA4LyJte7zd40DSe0NLZtQDTw130_provenance.
- NP207828.RA0saRBXKMkywjCScwsUCA4LyJte7zd40DSe0NLZtQDTw130_assertion wasGeneratedBy ECO_0000203 NP207828.RA0saRBXKMkywjCScwsUCA4LyJte7zd40DSe0NLZtQDTw130_provenance.