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- source_evidence_literature type ECO_0000212 NP318356.RAaPUTxL-ubZXzpOjgPJ-04rTT4d-bXECUhxhlExoMwaE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP318356.RAaPUTxL-ubZXzpOjgPJ-04rTT4d-bXECUhxhlExoMwaE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP318356.RAaPUTxL-ubZXzpOjgPJ-04rTT4d-bXECUhxhlExoMwaE130_provenance.
- NP318356.RAaPUTxL-ubZXzpOjgPJ-04rTT4d-bXECUhxhlExoMwaE130_assertion description "[Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3(R427C) and A3(R563C).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP318356.RAaPUTxL-ubZXzpOjgPJ-04rTT4d-bXECUhxhlExoMwaE130_provenance.
- NP318356.RAaPUTxL-ubZXzpOjgPJ-04rTT4d-bXECUhxhlExoMwaE130_assertion evidence source_evidence_literature NP318356.RAaPUTxL-ubZXzpOjgPJ-04rTT4d-bXECUhxhlExoMwaE130_provenance.
- NP318356.RAaPUTxL-ubZXzpOjgPJ-04rTT4d-bXECUhxhlExoMwaE130_assertion SIO_000772 18445228 NP318356.RAaPUTxL-ubZXzpOjgPJ-04rTT4d-bXECUhxhlExoMwaE130_provenance.
- NP318356.RAaPUTxL-ubZXzpOjgPJ-04rTT4d-bXECUhxhlExoMwaE130_assertion wasDerivedFrom befree-20150227 NP318356.RAaPUTxL-ubZXzpOjgPJ-04rTT4d-bXECUhxhlExoMwaE130_provenance.
- NP318356.RAaPUTxL-ubZXzpOjgPJ-04rTT4d-bXECUhxhlExoMwaE130_assertion wasGeneratedBy ECO_0000203 NP318356.RAaPUTxL-ubZXzpOjgPJ-04rTT4d-bXECUhxhlExoMwaE130_provenance.
- befree-20150227 importedOn "2015-02-27" NP318356.RAaPUTxL-ubZXzpOjgPJ-04rTT4d-bXECUhxhlExoMwaE130_provenance.