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- source_evidence_literature type ECO_0000212 NP979828.RA33eet5k5aDOPjlwiYBRHDIoUYnWI8xEn_26oVM_m58A130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP979828.RA33eet5k5aDOPjlwiYBRHDIoUYnWI8xEn_26oVM_m58A130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP979828.RA33eet5k5aDOPjlwiYBRHDIoUYnWI8xEn_26oVM_m58A130_provenance.
- NP979828.RA33eet5k5aDOPjlwiYBRHDIoUYnWI8xEn_26oVM_m58A130_assertion description "[By whole-exome sequencing of a multiplex kindred with ICA, we identify a heterozygous missense mutation (P236H) in NKX2-5 showing reduced transactivation in vitro.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP979828.RA33eet5k5aDOPjlwiYBRHDIoUYnWI8xEn_26oVM_m58A130_provenance.
- NP979828.RA33eet5k5aDOPjlwiYBRHDIoUYnWI8xEn_26oVM_m58A130_assertion evidence source_evidence_literature NP979828.RA33eet5k5aDOPjlwiYBRHDIoUYnWI8xEn_26oVM_m58A130_provenance.
- NP979828.RA33eet5k5aDOPjlwiYBRHDIoUYnWI8xEn_26oVM_m58A130_assertion SIO_000772 22560297 NP979828.RA33eet5k5aDOPjlwiYBRHDIoUYnWI8xEn_26oVM_m58A130_provenance.
- NP979828.RA33eet5k5aDOPjlwiYBRHDIoUYnWI8xEn_26oVM_m58A130_assertion wasDerivedFrom befree-2016 NP979828.RA33eet5k5aDOPjlwiYBRHDIoUYnWI8xEn_26oVM_m58A130_provenance.
- NP979828.RA33eet5k5aDOPjlwiYBRHDIoUYnWI8xEn_26oVM_m58A130_assertion wasGeneratedBy ECO_0000203 NP979828.RA33eet5k5aDOPjlwiYBRHDIoUYnWI8xEn_26oVM_m58A130_provenance.
- befree-2016 importedOn "2016-02-19" NP979828.RA33eet5k5aDOPjlwiYBRHDIoUYnWI8xEn_26oVM_m58A130_provenance.