Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP719667.RAQpoDcIWlIwMDqv56CUkNqvRnOtrNrt202fUxINEEESM130_assertion> ?p ?o ?g. }
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- NP719667.RAQpoDcIWlIwMDqv56CUkNqvRnOtrNrt202fUxINEEESM130_assertion type Assertion NP719667.RAQpoDcIWlIwMDqv56CUkNqvRnOtrNrt202fUxINEEESM130_head.
- NP719667.RAQpoDcIWlIwMDqv56CUkNqvRnOtrNrt202fUxINEEESM130_assertion description "[Here we describe another family with Snyder-Robinson syndrome in two Mexican brothers and a novel mutation (c.496T>G) in the exon 5 of the SMS gene confirming its involvement in this rare X-linked mental retardation syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP719667.RAQpoDcIWlIwMDqv56CUkNqvRnOtrNrt202fUxINEEESM130_provenance.
- NP719667.RAQpoDcIWlIwMDqv56CUkNqvRnOtrNrt202fUxINEEESM130_assertion evidence source_evidence_literature NP719667.RAQpoDcIWlIwMDqv56CUkNqvRnOtrNrt202fUxINEEESM130_provenance.
- NP719667.RAQpoDcIWlIwMDqv56CUkNqvRnOtrNrt202fUxINEEESM130_assertion SIO_000772 19206178 NP719667.RAQpoDcIWlIwMDqv56CUkNqvRnOtrNrt202fUxINEEESM130_provenance.
- NP719667.RAQpoDcIWlIwMDqv56CUkNqvRnOtrNrt202fUxINEEESM130_assertion wasDerivedFrom befree-2016 NP719667.RAQpoDcIWlIwMDqv56CUkNqvRnOtrNrt202fUxINEEESM130_provenance.
- NP719667.RAQpoDcIWlIwMDqv56CUkNqvRnOtrNrt202fUxINEEESM130_assertion wasGeneratedBy ECO_0000203 NP719667.RAQpoDcIWlIwMDqv56CUkNqvRnOtrNrt202fUxINEEESM130_provenance.