Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP384986.RAlJq6kxAaMhUm3fkS0c0kxPc8rdWDUYMqsvOpV_dBMu0130_assertion> ?p ?o ?g. }
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- NP384986.RAlJq6kxAaMhUm3fkS0c0kxPc8rdWDUYMqsvOpV_dBMu0130_assertion type Assertion NP384986.RAlJq6kxAaMhUm3fkS0c0kxPc8rdWDUYMqsvOpV_dBMu0130_head.
- NP384986.RAlJq6kxAaMhUm3fkS0c0kxPc8rdWDUYMqsvOpV_dBMu0130_assertion description "[We identified two germline mutations in SMARCB1 associated with the familial disease, c.233-1G>A and the novel c.207_208dupTA mutation, which both proved to affect the main SMARCB1 isoforms at the RNA level distinctly.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP384986.RAlJq6kxAaMhUm3fkS0c0kxPc8rdWDUYMqsvOpV_dBMu0130_provenance.
- NP384986.RAlJq6kxAaMhUm3fkS0c0kxPc8rdWDUYMqsvOpV_dBMu0130_assertion evidence source_evidence_literature NP384986.RAlJq6kxAaMhUm3fkS0c0kxPc8rdWDUYMqsvOpV_dBMu0130_provenance.
- NP384986.RAlJq6kxAaMhUm3fkS0c0kxPc8rdWDUYMqsvOpV_dBMu0130_assertion SIO_000772 22752724 NP384986.RAlJq6kxAaMhUm3fkS0c0kxPc8rdWDUYMqsvOpV_dBMu0130_provenance.
- NP384986.RAlJq6kxAaMhUm3fkS0c0kxPc8rdWDUYMqsvOpV_dBMu0130_assertion wasDerivedFrom befree-20140225 NP384986.RAlJq6kxAaMhUm3fkS0c0kxPc8rdWDUYMqsvOpV_dBMu0130_provenance.
- NP384986.RAlJq6kxAaMhUm3fkS0c0kxPc8rdWDUYMqsvOpV_dBMu0130_assertion wasGeneratedBy ECO_0000203 NP384986.RAlJq6kxAaMhUm3fkS0c0kxPc8rdWDUYMqsvOpV_dBMu0130_provenance.