Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP704265.RADxYm4o6-P_jtWlqp0y44ABwbh6oTTf7LVOsmIqDefwU130_assertion> ?p ?o ?g. }
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- NP704265.RADxYm4o6-P_jtWlqp0y44ABwbh6oTTf7LVOsmIqDefwU130_assertion type Assertion NP704265.RADxYm4o6-P_jtWlqp0y44ABwbh6oTTf7LVOsmIqDefwU130_head.
- NP704265.RADxYm4o6-P_jtWlqp0y44ABwbh6oTTf7LVOsmIqDefwU130_assertion description "[A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP704265.RADxYm4o6-P_jtWlqp0y44ABwbh6oTTf7LVOsmIqDefwU130_provenance.
- NP704265.RADxYm4o6-P_jtWlqp0y44ABwbh6oTTf7LVOsmIqDefwU130_assertion evidence source_evidence_literature NP704265.RADxYm4o6-P_jtWlqp0y44ABwbh6oTTf7LVOsmIqDefwU130_provenance.
- NP704265.RADxYm4o6-P_jtWlqp0y44ABwbh6oTTf7LVOsmIqDefwU130_assertion SIO_000772 19206178 NP704265.RADxYm4o6-P_jtWlqp0y44ABwbh6oTTf7LVOsmIqDefwU130_provenance.
- NP704265.RADxYm4o6-P_jtWlqp0y44ABwbh6oTTf7LVOsmIqDefwU130_assertion wasDerivedFrom befree-20150227 NP704265.RADxYm4o6-P_jtWlqp0y44ABwbh6oTTf7LVOsmIqDefwU130_provenance.
- NP704265.RADxYm4o6-P_jtWlqp0y44ABwbh6oTTf7LVOsmIqDefwU130_assertion wasGeneratedBy ECO_0000203 NP704265.RADxYm4o6-P_jtWlqp0y44ABwbh6oTTf7LVOsmIqDefwU130_provenance.