Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP719666.RA_LSOUfwgnxDzwSsEzKxBGw3qugjX6z4AOg7tfrNmEiI130_assertion> ?p ?o ?g. }
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- NP719666.RA_LSOUfwgnxDzwSsEzKxBGw3qugjX6z4AOg7tfrNmEiI130_assertion type Assertion NP719666.RA_LSOUfwgnxDzwSsEzKxBGw3qugjX6z4AOg7tfrNmEiI130_head.
- NP719666.RA_LSOUfwgnxDzwSsEzKxBGw3qugjX6z4AOg7tfrNmEiI130_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." NP719666.RA_LSOUfwgnxDzwSsEzKxBGw3qugjX6z4AOg7tfrNmEiI130_provenance.
- NP719666.RA_LSOUfwgnxDzwSsEzKxBGw3qugjX6z4AOg7tfrNmEiI130_assertion evidence source_evidence_literature NP719666.RA_LSOUfwgnxDzwSsEzKxBGw3qugjX6z4AOg7tfrNmEiI130_provenance.
- NP719666.RA_LSOUfwgnxDzwSsEzKxBGw3qugjX6z4AOg7tfrNmEiI130_assertion SIO_000772 19206178 NP719666.RA_LSOUfwgnxDzwSsEzKxBGw3qugjX6z4AOg7tfrNmEiI130_provenance.
- NP719666.RA_LSOUfwgnxDzwSsEzKxBGw3qugjX6z4AOg7tfrNmEiI130_assertion wasDerivedFrom befree-2016 NP719666.RA_LSOUfwgnxDzwSsEzKxBGw3qugjX6z4AOg7tfrNmEiI130_provenance.
- NP719666.RA_LSOUfwgnxDzwSsEzKxBGw3qugjX6z4AOg7tfrNmEiI130_assertion wasGeneratedBy ECO_0000203 NP719666.RA_LSOUfwgnxDzwSsEzKxBGw3qugjX6z4AOg7tfrNmEiI130_provenance.