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- source_evidence_literature type ECO_0000212 NP850046.RAMhslBVCtg_HFeM2zfjO9-ybI-r-m5nBf-Nhw6QBtNQA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP850046.RAMhslBVCtg_HFeM2zfjO9-ybI-r-m5nBf-Nhw6QBtNQA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP850046.RAMhslBVCtg_HFeM2zfjO9-ybI-r-m5nBf-Nhw6QBtNQA130_provenance.
- NP850046.RAMhslBVCtg_HFeM2zfjO9-ybI-r-m5nBf-Nhw6QBtNQA130_assertion wasGeneratedBy ECO_0000203 NP850046.RAMhslBVCtg_HFeM2zfjO9-ybI-r-m5nBf-Nhw6QBtNQA130_provenance.
- NP850046.RAMhslBVCtg_HFeM2zfjO9-ybI-r-m5nBf-Nhw6QBtNQA130_assertion wasDerivedFrom befree-20140225 NP850046.RAMhslBVCtg_HFeM2zfjO9-ybI-r-m5nBf-Nhw6QBtNQA130_provenance.
- NP850046.RAMhslBVCtg_HFeM2zfjO9-ybI-r-m5nBf-Nhw6QBtNQA130_assertion SIO_000772 23227268 NP850046.RAMhslBVCtg_HFeM2zfjO9-ybI-r-m5nBf-Nhw6QBtNQA130_provenance.
- NP850046.RAMhslBVCtg_HFeM2zfjO9-ybI-r-m5nBf-Nhw6QBtNQA130_assertion evidence source_evidence_literature NP850046.RAMhslBVCtg_HFeM2zfjO9-ybI-r-m5nBf-Nhw6QBtNQA130_provenance.
- NP850046.RAMhslBVCtg_HFeM2zfjO9-ybI-r-m5nBf-Nhw6QBtNQA130_assertion description "[A spontaneous novel mutation in COL1A2 (c.1171G>A; p.Gly391Ser) causing only dentin defects and a novel mutation in PAX9 (c.43T>A; p.Phe15Ile) causing hypodontia were identified and correlated with the phenotypic presentations in the family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP850046.RAMhslBVCtg_HFeM2zfjO9-ybI-r-m5nBf-Nhw6QBtNQA130_provenance.
- befree-20140225 importedOn "2014-02-25" NP850046.RAMhslBVCtg_HFeM2zfjO9-ybI-r-m5nBf-Nhw6QBtNQA130_provenance.