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- source_evidence_literature type ECO_0000212 NP1006901.RAoAJ9qwwBMficj53l-1571TCl4k-MpwmnfR6uK0yOh7E130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1006901.RAoAJ9qwwBMficj53l-1571TCl4k-MpwmnfR6uK0yOh7E130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1006901.RAoAJ9qwwBMficj53l-1571TCl4k-MpwmnfR6uK0yOh7E130_provenance.
- NP1006901.RAoAJ9qwwBMficj53l-1571TCl4k-MpwmnfR6uK0yOh7E130_assertion description "[Here, we report mutations (c.288G>T [p.Trp96Cys] and c.643C>T [p.Leu215Phe]) in CYC1, encoding the cytochrome c1 subunit of complex III, in two unrelated children presenting with recurrent episodes of ketoacidosis and insulin-responsive hyperglycemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1006901.RAoAJ9qwwBMficj53l-1571TCl4k-MpwmnfR6uK0yOh7E130_provenance.
- NP1006901.RAoAJ9qwwBMficj53l-1571TCl4k-MpwmnfR6uK0yOh7E130_assertion evidence source_evidence_literature NP1006901.RAoAJ9qwwBMficj53l-1571TCl4k-MpwmnfR6uK0yOh7E130_provenance.
- NP1006901.RAoAJ9qwwBMficj53l-1571TCl4k-MpwmnfR6uK0yOh7E130_assertion SIO_000772 23910460 NP1006901.RAoAJ9qwwBMficj53l-1571TCl4k-MpwmnfR6uK0yOh7E130_provenance.
- NP1006901.RAoAJ9qwwBMficj53l-1571TCl4k-MpwmnfR6uK0yOh7E130_assertion wasDerivedFrom befree-20150227 NP1006901.RAoAJ9qwwBMficj53l-1571TCl4k-MpwmnfR6uK0yOh7E130_provenance.
- NP1006901.RAoAJ9qwwBMficj53l-1571TCl4k-MpwmnfR6uK0yOh7E130_assertion wasGeneratedBy ECO_0000203 NP1006901.RAoAJ9qwwBMficj53l-1571TCl4k-MpwmnfR6uK0yOh7E130_provenance.
- befree-20150227 importedOn "2015-02-27" NP1006901.RAoAJ9qwwBMficj53l-1571TCl4k-MpwmnfR6uK0yOh7E130_provenance.