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- source_evidence_literature type ECO_0000212 NP814437.RAfvOl3_0L_9Esn2_XW0_P74MIJ6xn66iW10b_DR6yT5I130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP814437.RAfvOl3_0L_9Esn2_XW0_P74MIJ6xn66iW10b_DR6yT5I130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP814437.RAfvOl3_0L_9Esn2_XW0_P74MIJ6xn66iW10b_DR6yT5I130_provenance.
- befree-20150227 importedOn "2015-02-27" NP814437.RAfvOl3_0L_9Esn2_XW0_P74MIJ6xn66iW10b_DR6yT5I130_provenance.
- NP814437.RAfvOl3_0L_9Esn2_XW0_P74MIJ6xn66iW10b_DR6yT5I130_assertion wasGeneratedBy ECO_0000203 NP814437.RAfvOl3_0L_9Esn2_XW0_P74MIJ6xn66iW10b_DR6yT5I130_provenance.
- NP814437.RAfvOl3_0L_9Esn2_XW0_P74MIJ6xn66iW10b_DR6yT5I130_assertion wasDerivedFrom befree-20150227 NP814437.RAfvOl3_0L_9Esn2_XW0_P74MIJ6xn66iW10b_DR6yT5I130_provenance.
- NP814437.RAfvOl3_0L_9Esn2_XW0_P74MIJ6xn66iW10b_DR6yT5I130_assertion SIO_000772 11558903 NP814437.RAfvOl3_0L_9Esn2_XW0_P74MIJ6xn66iW10b_DR6yT5I130_provenance.
- NP814437.RAfvOl3_0L_9Esn2_XW0_P74MIJ6xn66iW10b_DR6yT5I130_assertion evidence source_evidence_literature NP814437.RAfvOl3_0L_9Esn2_XW0_P74MIJ6xn66iW10b_DR6yT5I130_provenance.
- NP814437.RAfvOl3_0L_9Esn2_XW0_P74MIJ6xn66iW10b_DR6yT5I130_assertion description "[Two sulfation-related genes have been reported as the causal genes of severe chondrodysplasias: mutations in PAPSS2 (3'-phosphoadenosine 5'-phosphosulfate synthase 2) cause spondylo-epimetaphyseal dysplasia (SEMD), and mutations in SLC26A2 (solute carrier family 26, member 2) cause diastrophic dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP814437.RAfvOl3_0L_9Esn2_XW0_P74MIJ6xn66iW10b_DR6yT5I130_provenance.