Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1347083.RAmGD0VflmHdoyy1upuzSanpDJHeH11JQdalmYoxKULyE130_assertion> ?p ?o ?g. }
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- NP1347083.RAmGD0VflmHdoyy1upuzSanpDJHeH11JQdalmYoxKULyE130_assertion type Assertion NP1347083.RAmGD0VflmHdoyy1upuzSanpDJHeH11JQdalmYoxKULyE130_head.
- NP1347083.RAmGD0VflmHdoyy1upuzSanpDJHeH11JQdalmYoxKULyE130_assertion description "[The SMN gene is homozygously deleted for both exons 7 and 8 or exon 7 only in 96% of type I SMA, 94% of type II SMA and 82% of type III SMA as well as in 0.3% of SMA parents.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1347083.RAmGD0VflmHdoyy1upuzSanpDJHeH11JQdalmYoxKULyE130_provenance.
- NP1347083.RAmGD0VflmHdoyy1upuzSanpDJHeH11JQdalmYoxKULyE130_assertion evidence source_evidence_literature NP1347083.RAmGD0VflmHdoyy1upuzSanpDJHeH11JQdalmYoxKULyE130_provenance.
- NP1347083.RAmGD0VflmHdoyy1upuzSanpDJHeH11JQdalmYoxKULyE130_assertion SIO_000772 8595417 NP1347083.RAmGD0VflmHdoyy1upuzSanpDJHeH11JQdalmYoxKULyE130_provenance.
- NP1347083.RAmGD0VflmHdoyy1upuzSanpDJHeH11JQdalmYoxKULyE130_assertion wasDerivedFrom befree-2016 NP1347083.RAmGD0VflmHdoyy1upuzSanpDJHeH11JQdalmYoxKULyE130_provenance.
- NP1347083.RAmGD0VflmHdoyy1upuzSanpDJHeH11JQdalmYoxKULyE130_assertion wasGeneratedBy ECO_0000203 NP1347083.RAmGD0VflmHdoyy1upuzSanpDJHeH11JQdalmYoxKULyE130_provenance.