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- source_evidence_literature type ECO_0000212 NP824748.RA_Ry0ekhC0H-dUKkQod2YUZLV5KEF_IB7BK05vkodioI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP824748.RA_Ry0ekhC0H-dUKkQod2YUZLV5KEF_IB7BK05vkodioI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP824748.RA_Ry0ekhC0H-dUKkQod2YUZLV5KEF_IB7BK05vkodioI130_provenance.
- NP824748.RA_Ry0ekhC0H-dUKkQod2YUZLV5KEF_IB7BK05vkodioI130_assertion description "[1) Mutations in myotilin cause MFM; 2) exon 2 of MYOT is a hotspot for mutations; 3) peripheral neuropathy, cardiomyopathy, and distal weakness greater than proximal weakness are part of the spectrum of myotilinopathy; 4) not all cases of myotilinopathy have a limb-girdle phenotype; and 5) the molecular basis of the majority of MFM cases remains to be discovered.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP824748.RA_Ry0ekhC0H-dUKkQod2YUZLV5KEF_IB7BK05vkodioI130_provenance.
- NP824748.RA_Ry0ekhC0H-dUKkQod2YUZLV5KEF_IB7BK05vkodioI130_assertion evidence source_evidence_literature NP824748.RA_Ry0ekhC0H-dUKkQod2YUZLV5KEF_IB7BK05vkodioI130_provenance.
- NP824748.RA_Ry0ekhC0H-dUKkQod2YUZLV5KEF_IB7BK05vkodioI130_assertion SIO_000772 15111675 NP824748.RA_Ry0ekhC0H-dUKkQod2YUZLV5KEF_IB7BK05vkodioI130_provenance.
- NP824748.RA_Ry0ekhC0H-dUKkQod2YUZLV5KEF_IB7BK05vkodioI130_assertion wasDerivedFrom befree-20150227 NP824748.RA_Ry0ekhC0H-dUKkQod2YUZLV5KEF_IB7BK05vkodioI130_provenance.
- NP824748.RA_Ry0ekhC0H-dUKkQod2YUZLV5KEF_IB7BK05vkodioI130_assertion wasGeneratedBy ECO_0000203 NP824748.RA_Ry0ekhC0H-dUKkQod2YUZLV5KEF_IB7BK05vkodioI130_provenance.
- befree-20150227 importedOn "2015-02-27" NP824748.RA_Ry0ekhC0H-dUKkQod2YUZLV5KEF_IB7BK05vkodioI130_provenance.