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- source_evidence_literature type ECO_0000212 NP51610.RAo9DOeVpESa6C-5_Q4qHYJJhl_BzkqV5jwPdjkL98m-0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP51610.RAo9DOeVpESa6C-5_Q4qHYJJhl_BzkqV5jwPdjkL98m-0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP51610.RAo9DOeVpESa6C-5_Q4qHYJJhl_BzkqV5jwPdjkL98m-0130_provenance.
- NP51610.RAo9DOeVpESa6C-5_Q4qHYJJhl_BzkqV5jwPdjkL98m-0130_assertion description "[This case-control study revealed eight mutations in the GDF9 gene, including five novel mutations: c.1-8C>T, c.199A>C (p.Lys67Glu), c. 205C>T, c.646G>A (p.Val216Mat), and c.1353C>T, and three documented mutations: c.398-39C>G, c.447C>T, and c.546G>A. Missense mutation c.199A>C was present in 4 of 127 premature ovarian failure (POF) cases and 1 of 10 secondary amenorrhea cases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP51610.RAo9DOeVpESa6C-5_Q4qHYJJhl_BzkqV5jwPdjkL98m-0130_provenance.
- NP51610.RAo9DOeVpESa6C-5_Q4qHYJJhl_BzkqV5jwPdjkL98m-0130_assertion evidence source_evidence_literature NP51610.RAo9DOeVpESa6C-5_Q4qHYJJhl_BzkqV5jwPdjkL98m-0130_provenance.
- NP51610.RAo9DOeVpESa6C-5_Q4qHYJJhl_BzkqV5jwPdjkL98m-0130_assertion SIO_000772 16278619 NP51610.RAo9DOeVpESa6C-5_Q4qHYJJhl_BzkqV5jwPdjkL98m-0130_provenance.
- NP51610.RAo9DOeVpESa6C-5_Q4qHYJJhl_BzkqV5jwPdjkL98m-0130_assertion wasDerivedFrom gad-20150221 NP51610.RAo9DOeVpESa6C-5_Q4qHYJJhl_BzkqV5jwPdjkL98m-0130_provenance.
- NP51610.RAo9DOeVpESa6C-5_Q4qHYJJhl_BzkqV5jwPdjkL98m-0130_assertion wasGeneratedBy ECO_0000203 NP51610.RAo9DOeVpESa6C-5_Q4qHYJJhl_BzkqV5jwPdjkL98m-0130_provenance.
- gad-20150221 importedOn "2015-02-21" NP51610.RAo9DOeVpESa6C-5_Q4qHYJJhl_BzkqV5jwPdjkL98m-0130_provenance.