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- source_evidence_literature type ECO_0000212 NP770054.RAtYlnrVeBfney3v3pcZVfosyjnnfu5VSuDI4phqtEs8U130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP770054.RAtYlnrVeBfney3v3pcZVfosyjnnfu5VSuDI4phqtEs8U130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP770054.RAtYlnrVeBfney3v3pcZVfosyjnnfu5VSuDI4phqtEs8U130_provenance.
- NP770054.RAtYlnrVeBfney3v3pcZVfosyjnnfu5VSuDI4phqtEs8U130_assertion description "[Brachytelephalangic chondrodysplasia punctata (CDPX1) is an X-linked recessive disorder caused by mutations in the arylsulfatase E (ARSE) gene, characterized by the presence of stippled epiphyses on radiograms in infancy and early childhood.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP770054.RAtYlnrVeBfney3v3pcZVfosyjnnfu5VSuDI4phqtEs8U130_provenance.
- NP770054.RAtYlnrVeBfney3v3pcZVfosyjnnfu5VSuDI4phqtEs8U130_assertion evidence source_evidence_literature NP770054.RAtYlnrVeBfney3v3pcZVfosyjnnfu5VSuDI4phqtEs8U130_provenance.
- NP770054.RAtYlnrVeBfney3v3pcZVfosyjnnfu5VSuDI4phqtEs8U130_assertion SIO_000772 19839041 NP770054.RAtYlnrVeBfney3v3pcZVfosyjnnfu5VSuDI4phqtEs8U130_provenance.
- NP770054.RAtYlnrVeBfney3v3pcZVfosyjnnfu5VSuDI4phqtEs8U130_assertion wasDerivedFrom befree-2016 NP770054.RAtYlnrVeBfney3v3pcZVfosyjnnfu5VSuDI4phqtEs8U130_provenance.
- NP770054.RAtYlnrVeBfney3v3pcZVfosyjnnfu5VSuDI4phqtEs8U130_assertion wasGeneratedBy ECO_0000203 NP770054.RAtYlnrVeBfney3v3pcZVfosyjnnfu5VSuDI4phqtEs8U130_provenance.
- befree-2016 importedOn "2016-02-19" NP770054.RAtYlnrVeBfney3v3pcZVfosyjnnfu5VSuDI4phqtEs8U130_provenance.