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- source_evidence_literature type ECO_0000212 NP691681.RAb-WlpKn_HnHsXNf6qt2q5BNq8xL4MVfSfHdhUEADanw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP691681.RAb-WlpKn_HnHsXNf6qt2q5BNq8xL4MVfSfHdhUEADanw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP691681.RAb-WlpKn_HnHsXNf6qt2q5BNq8xL4MVfSfHdhUEADanw130_provenance.
- NP691681.RAb-WlpKn_HnHsXNf6qt2q5BNq8xL4MVfSfHdhUEADanw130_assertion description "[Seventy percent of the cases of hereditary surfactant protein-B deficiency are caused by homozygosity for the 121ins2 mutation in the surfactant protein-B gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP691681.RAb-WlpKn_HnHsXNf6qt2q5BNq8xL4MVfSfHdhUEADanw130_provenance.
- NP691681.RAb-WlpKn_HnHsXNf6qt2q5BNq8xL4MVfSfHdhUEADanw130_assertion evidence source_evidence_literature NP691681.RAb-WlpKn_HnHsXNf6qt2q5BNq8xL4MVfSfHdhUEADanw130_provenance.
- NP691681.RAb-WlpKn_HnHsXNf6qt2q5BNq8xL4MVfSfHdhUEADanw130_assertion SIO_000772 19833825 NP691681.RAb-WlpKn_HnHsXNf6qt2q5BNq8xL4MVfSfHdhUEADanw130_provenance.
- NP691681.RAb-WlpKn_HnHsXNf6qt2q5BNq8xL4MVfSfHdhUEADanw130_assertion wasDerivedFrom befree-20150227 NP691681.RAb-WlpKn_HnHsXNf6qt2q5BNq8xL4MVfSfHdhUEADanw130_provenance.
- NP691681.RAb-WlpKn_HnHsXNf6qt2q5BNq8xL4MVfSfHdhUEADanw130_assertion wasGeneratedBy ECO_0000203 NP691681.RAb-WlpKn_HnHsXNf6qt2q5BNq8xL4MVfSfHdhUEADanw130_provenance.
- befree-20150227 importedOn "2015-02-27" NP691681.RAb-WlpKn_HnHsXNf6qt2q5BNq8xL4MVfSfHdhUEADanw130_provenance.