Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP255866.RAgyfYW9NBHtD9XMxvFqcfhTADp8gmYLvS7QLz_3vUmgc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP255866.RAgyfYW9NBHtD9XMxvFqcfhTADp8gmYLvS7QLz_3vUmgc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP255866.RAgyfYW9NBHtD9XMxvFqcfhTADp8gmYLvS7QLz_3vUmgc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP255866.RAgyfYW9NBHtD9XMxvFqcfhTADp8gmYLvS7QLz_3vUmgc130_provenance.
- NP255866.RAgyfYW9NBHtD9XMxvFqcfhTADp8gmYLvS7QLz_3vUmgc130_assertion description "[The most common mutation causing the severe form of CAH is a conversion of an A or C at nucleotide (nt) 656 to a G in the second intron of the steroid 21-hydroxylase gene (CYP21) causing aberrant splicing of mRNA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP255866.RAgyfYW9NBHtD9XMxvFqcfhTADp8gmYLvS7QLz_3vUmgc130_provenance.
- NP255866.RAgyfYW9NBHtD9XMxvFqcfhTADp8gmYLvS7QLz_3vUmgc130_assertion evidence source_evidence_literature NP255866.RAgyfYW9NBHtD9XMxvFqcfhTADp8gmYLvS7QLz_3vUmgc130_provenance.
- NP255866.RAgyfYW9NBHtD9XMxvFqcfhTADp8gmYLvS7QLz_3vUmgc130_assertion SIO_000772 10381826 NP255866.RAgyfYW9NBHtD9XMxvFqcfhTADp8gmYLvS7QLz_3vUmgc130_provenance.
- NP255866.RAgyfYW9NBHtD9XMxvFqcfhTADp8gmYLvS7QLz_3vUmgc130_assertion wasDerivedFrom befree-2016 NP255866.RAgyfYW9NBHtD9XMxvFqcfhTADp8gmYLvS7QLz_3vUmgc130_provenance.
- NP255866.RAgyfYW9NBHtD9XMxvFqcfhTADp8gmYLvS7QLz_3vUmgc130_assertion wasGeneratedBy ECO_0000203 NP255866.RAgyfYW9NBHtD9XMxvFqcfhTADp8gmYLvS7QLz_3vUmgc130_provenance.
- befree-2016 importedOn "2016-02-19" NP255866.RAgyfYW9NBHtD9XMxvFqcfhTADp8gmYLvS7QLz_3vUmgc130_provenance.