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- source_evidence_literature type ECO_0000212 NP670738.RAYrDZJj3-2J5dOxbpVfyy4dPe3MXIU52SD1bchZlouv8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP670738.RAYrDZJj3-2J5dOxbpVfyy4dPe3MXIU52SD1bchZlouv8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP670738.RAYrDZJj3-2J5dOxbpVfyy4dPe3MXIU52SD1bchZlouv8130_provenance.
- NP670738.RAYrDZJj3-2J5dOxbpVfyy4dPe3MXIU52SD1bchZlouv8130_assertion description "[We describe a patient with Gorlin syndrome who had three molecular aberrations resulting in biallelic disruption of the PTCH gene, leading to abnormal protein expression and development of basal cell carcinoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP670738.RAYrDZJj3-2J5dOxbpVfyy4dPe3MXIU52SD1bchZlouv8130_provenance.
- NP670738.RAYrDZJj3-2J5dOxbpVfyy4dPe3MXIU52SD1bchZlouv8130_assertion evidence source_evidence_literature NP670738.RAYrDZJj3-2J5dOxbpVfyy4dPe3MXIU52SD1bchZlouv8130_provenance.
- NP670738.RAYrDZJj3-2J5dOxbpVfyy4dPe3MXIU52SD1bchZlouv8130_assertion SIO_000772 18476955 NP670738.RAYrDZJj3-2J5dOxbpVfyy4dPe3MXIU52SD1bchZlouv8130_provenance.
- NP670738.RAYrDZJj3-2J5dOxbpVfyy4dPe3MXIU52SD1bchZlouv8130_assertion wasDerivedFrom befree-2016 NP670738.RAYrDZJj3-2J5dOxbpVfyy4dPe3MXIU52SD1bchZlouv8130_provenance.
- NP670738.RAYrDZJj3-2J5dOxbpVfyy4dPe3MXIU52SD1bchZlouv8130_assertion wasGeneratedBy ECO_0000203 NP670738.RAYrDZJj3-2J5dOxbpVfyy4dPe3MXIU52SD1bchZlouv8130_provenance.
- befree-2016 importedOn "2016-02-19" NP670738.RAYrDZJj3-2J5dOxbpVfyy4dPe3MXIU52SD1bchZlouv8130_provenance.