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- source_evidence_literature type ECO_0000212 NP803651.RAmkrKH9lA8Qn5HElKzMoauC6AUL99shr7jul_IBB8iC4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP803651.RAmkrKH9lA8Qn5HElKzMoauC6AUL99shr7jul_IBB8iC4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP803651.RAmkrKH9lA8Qn5HElKzMoauC6AUL99shr7jul_IBB8iC4130_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.
- NP803651.RAmkrKH9lA8Qn5HElKzMoauC6AUL99shr7jul_IBB8iC4130_assertion evidence source_evidence_literature NP803651.RAmkrKH9lA8Qn5HElKzMoauC6AUL99shr7jul_IBB8iC4130_provenance.
- NP803651.RAmkrKH9lA8Qn5HElKzMoauC6AUL99shr7jul_IBB8iC4130_assertion SIO_000772 20358602 NP803651.RAmkrKH9lA8Qn5HElKzMoauC6AUL99shr7jul_IBB8iC4130_provenance.
- NP803651.RAmkrKH9lA8Qn5HElKzMoauC6AUL99shr7jul_IBB8iC4130_assertion wasDerivedFrom befree-2016 NP803651.RAmkrKH9lA8Qn5HElKzMoauC6AUL99shr7jul_IBB8iC4130_provenance.
- NP803651.RAmkrKH9lA8Qn5HElKzMoauC6AUL99shr7jul_IBB8iC4130_assertion wasGeneratedBy ECO_0000203 NP803651.RAmkrKH9lA8Qn5HElKzMoauC6AUL99shr7jul_IBB8iC4130_provenance.
- befree-2016 importedOn "2016-02-19" NP803651.RAmkrKH9lA8Qn5HElKzMoauC6AUL99shr7jul_IBB8iC4130_provenance.