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- source_evidence_literature type ECO_0000212 NP192959.RA0T9T5Gbs-fULhuCj4-ZaXyIrWsDdxlS_gMXpzI9R1KE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP192959.RA0T9T5Gbs-fULhuCj4-ZaXyIrWsDdxlS_gMXpzI9R1KE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP192959.RA0T9T5Gbs-fULhuCj4-ZaXyIrWsDdxlS_gMXpzI9R1KE130_provenance.
- NP192959.RA0T9T5Gbs-fULhuCj4-ZaXyIrWsDdxlS_gMXpzI9R1KE130_assertion description "[Since the phenotype of the patient with a complete deletion of the JAG1 gene is indistinguishable from that of patients with intragenic mutations, our study further supports the hypothesis that haploinsufficiency is the most common mechanism involved in AGS pathogenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP192959.RA0T9T5Gbs-fULhuCj4-ZaXyIrWsDdxlS_gMXpzI9R1KE130_provenance.
- NP192959.RA0T9T5Gbs-fULhuCj4-ZaXyIrWsDdxlS_gMXpzI9R1KE130_assertion evidence source_evidence_literature NP192959.RA0T9T5Gbs-fULhuCj4-ZaXyIrWsDdxlS_gMXpzI9R1KE130_provenance.
- NP192959.RA0T9T5Gbs-fULhuCj4-ZaXyIrWsDdxlS_gMXpzI9R1KE130_assertion SIO_000772 10533065 NP192959.RA0T9T5Gbs-fULhuCj4-ZaXyIrWsDdxlS_gMXpzI9R1KE130_provenance.
- NP192959.RA0T9T5Gbs-fULhuCj4-ZaXyIrWsDdxlS_gMXpzI9R1KE130_assertion wasDerivedFrom befree-20140225 NP192959.RA0T9T5Gbs-fULhuCj4-ZaXyIrWsDdxlS_gMXpzI9R1KE130_provenance.
- NP192959.RA0T9T5Gbs-fULhuCj4-ZaXyIrWsDdxlS_gMXpzI9R1KE130_assertion wasGeneratedBy ECO_0000203 NP192959.RA0T9T5Gbs-fULhuCj4-ZaXyIrWsDdxlS_gMXpzI9R1KE130_provenance.
- befree-20140225 importedOn "2014-02-25" NP192959.RA0T9T5Gbs-fULhuCj4-ZaXyIrWsDdxlS_gMXpzI9R1KE130_provenance.