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- source_evidence_literature type ECO_0000212 NP824757.RAptx3tOz6gCzkC4tq6BNc5KDs-uROter3nlv1VjU93zI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP824757.RAptx3tOz6gCzkC4tq6BNc5KDs-uROter3nlv1VjU93zI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP824757.RAptx3tOz6gCzkC4tq6BNc5KDs-uROter3nlv1VjU93zI130_provenance.
- NP824757.RAptx3tOz6gCzkC4tq6BNc5KDs-uROter3nlv1VjU93zI130_assertion description "[The Spanish cohort, the largest group of patients studied so far, shares phenotypic features with both LGMD1A and MFM/MYOT variants thus establishing a continuum of phenotypic manifestations characteristic of myotilinopathy, an emerging neuromuscular disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP824757.RAptx3tOz6gCzkC4tq6BNc5KDs-uROter3nlv1VjU93zI130_provenance.
- NP824757.RAptx3tOz6gCzkC4tq6BNc5KDs-uROter3nlv1VjU93zI130_assertion evidence source_evidence_literature NP824757.RAptx3tOz6gCzkC4tq6BNc5KDs-uROter3nlv1VjU93zI130_provenance.
- NP824757.RAptx3tOz6gCzkC4tq6BNc5KDs-uROter3nlv1VjU93zI130_assertion SIO_000772 15947064 NP824757.RAptx3tOz6gCzkC4tq6BNc5KDs-uROter3nlv1VjU93zI130_provenance.
- NP824757.RAptx3tOz6gCzkC4tq6BNc5KDs-uROter3nlv1VjU93zI130_assertion wasDerivedFrom befree-20150227 NP824757.RAptx3tOz6gCzkC4tq6BNc5KDs-uROter3nlv1VjU93zI130_provenance.
- NP824757.RAptx3tOz6gCzkC4tq6BNc5KDs-uROter3nlv1VjU93zI130_assertion wasGeneratedBy ECO_0000203 NP824757.RAptx3tOz6gCzkC4tq6BNc5KDs-uROter3nlv1VjU93zI130_provenance.
- befree-20150227 importedOn "2015-02-27" NP824757.RAptx3tOz6gCzkC4tq6BNc5KDs-uROter3nlv1VjU93zI130_provenance.