Matches in Nanopublications for { ?s ?p "[Several patients shared the same mutation in NIPBL (p.R827GfsX2) but had variable phenotypes, indicating the influence of modifiers in CdLS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- assertion description "[Several patients shared the same mutation in NIPBL (p.R827GfsX2) but had variable phenotypes, indicating the influence of modifiers in CdLS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- NP803651.RAmkrKH9lA8Qn5HElKzMoauC6AUL99shr7jul_IBB8iC4130_assertion description "[Several patients shared the same mutation in NIPBL (p.R827GfsX2) but had variable phenotypes, indicating the influence of modifiers in CdLS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP803651.RAmkrKH9lA8Qn5HElKzMoauC6AUL99shr7jul_IBB8iC4130_provenance.