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- source_evidence_literature type ECO_0000212 NP286413.RAZH1JFPMSD0zgquiv3f3Q6tosVSySHOcCnlHic4URoxY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP286413.RAZH1JFPMSD0zgquiv3f3Q6tosVSySHOcCnlHic4URoxY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP286413.RAZH1JFPMSD0zgquiv3f3Q6tosVSySHOcCnlHic4URoxY130_provenance.
- NP286413.RAZH1JFPMSD0zgquiv3f3Q6tosVSySHOcCnlHic4URoxY130_assertion description "[We report an infant with holoprosencephaly (HPE), sacral anomalies, and situs ambiguus with a 46,XY,der(7)t(2;7)(p23.2;q36.1) karyotype as a result of an adjacent-1 segregation of a t(2;7)pat.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP286413.RAZH1JFPMSD0zgquiv3f3Q6tosVSySHOcCnlHic4URoxY130_provenance.
- NP286413.RAZH1JFPMSD0zgquiv3f3Q6tosVSySHOcCnlHic4URoxY130_assertion evidence source_evidence_literature NP286413.RAZH1JFPMSD0zgquiv3f3Q6tosVSySHOcCnlHic4URoxY130_provenance.
- NP286413.RAZH1JFPMSD0zgquiv3f3Q6tosVSySHOcCnlHic4URoxY130_assertion SIO_000772 10852374 NP286413.RAZH1JFPMSD0zgquiv3f3Q6tosVSySHOcCnlHic4URoxY130_provenance.
- NP286413.RAZH1JFPMSD0zgquiv3f3Q6tosVSySHOcCnlHic4URoxY130_assertion wasDerivedFrom befree-2016 NP286413.RAZH1JFPMSD0zgquiv3f3Q6tosVSySHOcCnlHic4URoxY130_provenance.
- NP286413.RAZH1JFPMSD0zgquiv3f3Q6tosVSySHOcCnlHic4URoxY130_assertion wasGeneratedBy ECO_0000203 NP286413.RAZH1JFPMSD0zgquiv3f3Q6tosVSySHOcCnlHic4URoxY130_provenance.
- befree-2016 importedOn "2016-02-19" NP286413.RAZH1JFPMSD0zgquiv3f3Q6tosVSySHOcCnlHic4URoxY130_provenance.