Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP623587.RAi-k5ckG11XgUEMS5qDfEpAn2zeE41IsLyTe1KYLo9Lg130_assertion> ?p ?o ?g. }
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- NP623587.RAi-k5ckG11XgUEMS5qDfEpAn2zeE41IsLyTe1KYLo9Lg130_assertion type Assertion NP623587.RAi-k5ckG11XgUEMS5qDfEpAn2zeE41IsLyTe1KYLo9Lg130_head.
- NP623587.RAi-k5ckG11XgUEMS5qDfEpAn2zeE41IsLyTe1KYLo9Lg130_assertion description "[The severe neonatal X-linked form (myotubular myopathy) is due to mutations in the phosphoinositide phosphatase myotubularin (MTM1), whereas mutations in dynamin 2 (DNM2) have been found in some autosomal dominant cases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP623587.RAi-k5ckG11XgUEMS5qDfEpAn2zeE41IsLyTe1KYLo9Lg130_provenance.
- NP623587.RAi-k5ckG11XgUEMS5qDfEpAn2zeE41IsLyTe1KYLo9Lg130_assertion evidence source_evidence_literature NP623587.RAi-k5ckG11XgUEMS5qDfEpAn2zeE41IsLyTe1KYLo9Lg130_provenance.
- NP623587.RAi-k5ckG11XgUEMS5qDfEpAn2zeE41IsLyTe1KYLo9Lg130_assertion SIO_000772 17676042 NP623587.RAi-k5ckG11XgUEMS5qDfEpAn2zeE41IsLyTe1KYLo9Lg130_provenance.
- NP623587.RAi-k5ckG11XgUEMS5qDfEpAn2zeE41IsLyTe1KYLo9Lg130_assertion wasDerivedFrom befree-2016 NP623587.RAi-k5ckG11XgUEMS5qDfEpAn2zeE41IsLyTe1KYLo9Lg130_provenance.
- NP623587.RAi-k5ckG11XgUEMS5qDfEpAn2zeE41IsLyTe1KYLo9Lg130_assertion wasGeneratedBy ECO_0000203 NP623587.RAi-k5ckG11XgUEMS5qDfEpAn2zeE41IsLyTe1KYLo9Lg130_provenance.