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- source_evidence_literature type ECO_0000212 NP452509.RAbWOZ0JKGc1yFIVJ4y07DavTdQuut9MFTx17TwxFwOMM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP452509.RAbWOZ0JKGc1yFIVJ4y07DavTdQuut9MFTx17TwxFwOMM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP452509.RAbWOZ0JKGc1yFIVJ4y07DavTdQuut9MFTx17TwxFwOMM130_provenance.
- NP452509.RAbWOZ0JKGc1yFIVJ4y07DavTdQuut9MFTx17TwxFwOMM130_assertion description "[FISH analysis demonstrated haploinsufficiency of HLXB9, a gene identified in the triad of a presacral mass (teratoma or anterior meningocele), sacral agenesis, and anorectal malformation, which constitutes the Currarino syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP452509.RAbWOZ0JKGc1yFIVJ4y07DavTdQuut9MFTx17TwxFwOMM130_provenance.
- NP452509.RAbWOZ0JKGc1yFIVJ4y07DavTdQuut9MFTx17TwxFwOMM130_assertion evidence source_evidence_literature NP452509.RAbWOZ0JKGc1yFIVJ4y07DavTdQuut9MFTx17TwxFwOMM130_provenance.
- NP452509.RAbWOZ0JKGc1yFIVJ4y07DavTdQuut9MFTx17TwxFwOMM130_assertion SIO_000772 14663834 NP452509.RAbWOZ0JKGc1yFIVJ4y07DavTdQuut9MFTx17TwxFwOMM130_provenance.
- NP452509.RAbWOZ0JKGc1yFIVJ4y07DavTdQuut9MFTx17TwxFwOMM130_assertion wasDerivedFrom befree-20150227 NP452509.RAbWOZ0JKGc1yFIVJ4y07DavTdQuut9MFTx17TwxFwOMM130_provenance.
- NP452509.RAbWOZ0JKGc1yFIVJ4y07DavTdQuut9MFTx17TwxFwOMM130_assertion wasGeneratedBy ECO_0000203 NP452509.RAbWOZ0JKGc1yFIVJ4y07DavTdQuut9MFTx17TwxFwOMM130_provenance.
- befree-20150227 importedOn "2015-02-27" NP452509.RAbWOZ0JKGc1yFIVJ4y07DavTdQuut9MFTx17TwxFwOMM130_provenance.