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- source_evidence_literature type ECO_0000212 NP228169.RAIqTdXuCkMj4mxbcafqcDSkdfiwKHCJAqzPeKMt8eegc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP228169.RAIqTdXuCkMj4mxbcafqcDSkdfiwKHCJAqzPeKMt8eegc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP228169.RAIqTdXuCkMj4mxbcafqcDSkdfiwKHCJAqzPeKMt8eegc130_provenance.
- NP228169.RAIqTdXuCkMj4mxbcafqcDSkdfiwKHCJAqzPeKMt8eegc130_assertion description "[We describe AGC1 deficiency, a novel syndrome characterized by arrested psychomotor development, hypotonia, and seizures in a child with a homozygous missense mutation in the solute carrier family 25, member 12, gene SLC25A12, which encodes the AGC1 protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP228169.RAIqTdXuCkMj4mxbcafqcDSkdfiwKHCJAqzPeKMt8eegc130_provenance.
- NP228169.RAIqTdXuCkMj4mxbcafqcDSkdfiwKHCJAqzPeKMt8eegc130_assertion evidence source_evidence_literature NP228169.RAIqTdXuCkMj4mxbcafqcDSkdfiwKHCJAqzPeKMt8eegc130_provenance.
- NP228169.RAIqTdXuCkMj4mxbcafqcDSkdfiwKHCJAqzPeKMt8eegc130_assertion SIO_000772 19641205 NP228169.RAIqTdXuCkMj4mxbcafqcDSkdfiwKHCJAqzPeKMt8eegc130_provenance.
- NP228169.RAIqTdXuCkMj4mxbcafqcDSkdfiwKHCJAqzPeKMt8eegc130_assertion wasDerivedFrom befree-20150227 NP228169.RAIqTdXuCkMj4mxbcafqcDSkdfiwKHCJAqzPeKMt8eegc130_provenance.
- NP228169.RAIqTdXuCkMj4mxbcafqcDSkdfiwKHCJAqzPeKMt8eegc130_assertion wasGeneratedBy ECO_0000203 NP228169.RAIqTdXuCkMj4mxbcafqcDSkdfiwKHCJAqzPeKMt8eegc130_provenance.
- befree-20150227 importedOn "2015-02-27" NP228169.RAIqTdXuCkMj4mxbcafqcDSkdfiwKHCJAqzPeKMt8eegc130_provenance.