Matches in Nanopublications for { ?s ?p "[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."@en ?g. }
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- 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.