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- source_evidence_literature type ECO_0000212 NP80488.RA6YDq7NbOUXzabp7BrXP7ZXH-qojsFhirDf6HyCvWWYA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP80488.RA6YDq7NbOUXzabp7BrXP7ZXH-qojsFhirDf6HyCvWWYA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP80488.RA6YDq7NbOUXzabp7BrXP7ZXH-qojsFhirDf6HyCvWWYA130_provenance.
- NP80488.RA6YDq7NbOUXzabp7BrXP7ZXH-qojsFhirDf6HyCvWWYA130_assertion description "[New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP80488.RA6YDq7NbOUXzabp7BrXP7ZXH-qojsFhirDf6HyCvWWYA130_provenance.
- NP80488.RA6YDq7NbOUXzabp7BrXP7ZXH-qojsFhirDf6HyCvWWYA130_assertion evidence source_evidence_literature NP80488.RA6YDq7NbOUXzabp7BrXP7ZXH-qojsFhirDf6HyCvWWYA130_provenance.
- NP80488.RA6YDq7NbOUXzabp7BrXP7ZXH-qojsFhirDf6HyCvWWYA130_assertion SIO_000772 12840783 NP80488.RA6YDq7NbOUXzabp7BrXP7ZXH-qojsFhirDf6HyCvWWYA130_provenance.
- NP80488.RA6YDq7NbOUXzabp7BrXP7ZXH-qojsFhirDf6HyCvWWYA130_assertion wasDerivedFrom gad-20150221 NP80488.RA6YDq7NbOUXzabp7BrXP7ZXH-qojsFhirDf6HyCvWWYA130_provenance.
- NP80488.RA6YDq7NbOUXzabp7BrXP7ZXH-qojsFhirDf6HyCvWWYA130_assertion wasGeneratedBy ECO_0000203 NP80488.RA6YDq7NbOUXzabp7BrXP7ZXH-qojsFhirDf6HyCvWWYA130_provenance.
- gad-20150221 importedOn "2015-02-21" NP80488.RA6YDq7NbOUXzabp7BrXP7ZXH-qojsFhirDf6HyCvWWYA130_provenance.