Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP824741.RAea2wlUWQ4YMfMcGnKjUlTFtCsWSWxf8tLMogrj9iEa4130_assertion> ?p ?o ?g. }
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- NP824741.RAea2wlUWQ4YMfMcGnKjUlTFtCsWSWxf8tLMogrj9iEa4130_assertion type Assertion NP824741.RAea2wlUWQ4YMfMcGnKjUlTFtCsWSWxf8tLMogrj9iEa4130_head.
- NP824741.RAea2wlUWQ4YMfMcGnKjUlTFtCsWSWxf8tLMogrj9iEa4130_assertion description "[Several myotilin point mutations have been described in patients with limb-girdle muscular dystrophy type 1A (LGMD1A), myofibrillar myopathy (MFM), spheroid body myopathy (SBM), three similar adult-onset, progressive and autosomal dominant muscular dystrophies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP824741.RAea2wlUWQ4YMfMcGnKjUlTFtCsWSWxf8tLMogrj9iEa4130_provenance.
- NP824741.RAea2wlUWQ4YMfMcGnKjUlTFtCsWSWxf8tLMogrj9iEa4130_assertion evidence source_evidence_literature NP824741.RAea2wlUWQ4YMfMcGnKjUlTFtCsWSWxf8tLMogrj9iEa4130_provenance.
- NP824741.RAea2wlUWQ4YMfMcGnKjUlTFtCsWSWxf8tLMogrj9iEa4130_assertion SIO_000772 16801328 NP824741.RAea2wlUWQ4YMfMcGnKjUlTFtCsWSWxf8tLMogrj9iEa4130_provenance.
- NP824741.RAea2wlUWQ4YMfMcGnKjUlTFtCsWSWxf8tLMogrj9iEa4130_assertion wasDerivedFrom befree-20150227 NP824741.RAea2wlUWQ4YMfMcGnKjUlTFtCsWSWxf8tLMogrj9iEa4130_provenance.
- NP824741.RAea2wlUWQ4YMfMcGnKjUlTFtCsWSWxf8tLMogrj9iEa4130_assertion wasGeneratedBy ECO_0000203 NP824741.RAea2wlUWQ4YMfMcGnKjUlTFtCsWSWxf8tLMogrj9iEa4130_provenance.