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- source_evidence_literature type ECO_0000212 NP658706.RAfmsCzM62AJegZo_xXlD3tE6YiNhF5hCWM45F17L_94E130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP658706.RAfmsCzM62AJegZo_xXlD3tE6YiNhF5hCWM45F17L_94E130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP658706.RAfmsCzM62AJegZo_xXlD3tE6YiNhF5hCWM45F17L_94E130_provenance.
- NP658706.RAfmsCzM62AJegZo_xXlD3tE6YiNhF5hCWM45F17L_94E130_assertion description "[We determined the frequencies of these mutations in ethnically diverse population and disease-based cohorts using restriction enzyme analysis (121ins2 and E292V) and a 5' nuclease assay (I73T) in DNA samples from population-based cohorts in Missouri, Norway, South Korea, and South Africa, and from a case-control cohort of newborns with and without RDS (n = 420).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP658706.RAfmsCzM62AJegZo_xXlD3tE6YiNhF5hCWM45F17L_94E130_provenance.
- NP658706.RAfmsCzM62AJegZo_xXlD3tE6YiNhF5hCWM45F17L_94E130_assertion evidence source_evidence_literature NP658706.RAfmsCzM62AJegZo_xXlD3tE6YiNhF5hCWM45F17L_94E130_provenance.
- NP658706.RAfmsCzM62AJegZo_xXlD3tE6YiNhF5hCWM45F17L_94E130_assertion SIO_000772 18317237 NP658706.RAfmsCzM62AJegZo_xXlD3tE6YiNhF5hCWM45F17L_94E130_provenance.
- NP658706.RAfmsCzM62AJegZo_xXlD3tE6YiNhF5hCWM45F17L_94E130_assertion wasDerivedFrom befree-2016 NP658706.RAfmsCzM62AJegZo_xXlD3tE6YiNhF5hCWM45F17L_94E130_provenance.
- NP658706.RAfmsCzM62AJegZo_xXlD3tE6YiNhF5hCWM45F17L_94E130_assertion wasGeneratedBy ECO_0000203 NP658706.RAfmsCzM62AJegZo_xXlD3tE6YiNhF5hCWM45F17L_94E130_provenance.
- befree-2016 importedOn "2016-02-19" NP658706.RAfmsCzM62AJegZo_xXlD3tE6YiNhF5hCWM45F17L_94E130_provenance.