Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP917689.RALXT7mWPZ2HD9f7N76XczDllDN0k9jOJkdrPewNNHIYc130_assertion> ?p ?o ?g. }
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- NP917689.RALXT7mWPZ2HD9f7N76XczDllDN0k9jOJkdrPewNNHIYc130_assertion type Assertion NP917689.RALXT7mWPZ2HD9f7N76XczDllDN0k9jOJkdrPewNNHIYc130_head.
- NP917689.RALXT7mWPZ2HD9f7N76XczDllDN0k9jOJkdrPewNNHIYc130_assertion wasGeneratedBy ECO_0000203 NP917689.RALXT7mWPZ2HD9f7N76XczDllDN0k9jOJkdrPewNNHIYc130_provenance.
- NP917689.RALXT7mWPZ2HD9f7N76XczDllDN0k9jOJkdrPewNNHIYc130_assertion wasDerivedFrom befree-20140225 NP917689.RALXT7mWPZ2HD9f7N76XczDllDN0k9jOJkdrPewNNHIYc130_provenance.
- NP917689.RALXT7mWPZ2HD9f7N76XczDllDN0k9jOJkdrPewNNHIYc130_assertion SIO_000772 22965130 NP917689.RALXT7mWPZ2HD9f7N76XczDllDN0k9jOJkdrPewNNHIYc130_provenance.
- NP917689.RALXT7mWPZ2HD9f7N76XczDllDN0k9jOJkdrPewNNHIYc130_assertion evidence source_evidence_literature NP917689.RALXT7mWPZ2HD9f7N76XczDllDN0k9jOJkdrPewNNHIYc130_provenance.
- NP917689.RALXT7mWPZ2HD9f7N76XczDllDN0k9jOJkdrPewNNHIYc130_assertion description "[Mutations in immunoglobulin µ-binding protein 2 (Ighmbp2) cause distal spinal muscular atrophy type 1 (DSMA1), an autosomal recessive disease that is clinically characterized by distal limb weakness and respiratory distress.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP917689.RALXT7mWPZ2HD9f7N76XczDllDN0k9jOJkdrPewNNHIYc130_provenance.