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- source_evidence_literature type ECO_0000212 NP961869.RArdRiT59mkRUypBRmtJ2ZKBnWnF184LS5yqwwQU5HlY0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP961869.RArdRiT59mkRUypBRmtJ2ZKBnWnF184LS5yqwwQU5HlY0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP961869.RArdRiT59mkRUypBRmtJ2ZKBnWnF184LS5yqwwQU5HlY0130_provenance.
- NP961869.RArdRiT59mkRUypBRmtJ2ZKBnWnF184LS5yqwwQU5HlY0130_assertion description "[The deficiency of ubiquitously expressed glucose-6-phosphatase (G6PC3) enzyme is known to result in a syndrome characterized by severe congenital neutropenia, prominent superficial venous pattern, congenital heart defects and genito-urinary malformations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP961869.RArdRiT59mkRUypBRmtJ2ZKBnWnF184LS5yqwwQU5HlY0130_provenance.
- NP961869.RArdRiT59mkRUypBRmtJ2ZKBnWnF184LS5yqwwQU5HlY0130_assertion evidence source_evidence_literature NP961869.RArdRiT59mkRUypBRmtJ2ZKBnWnF184LS5yqwwQU5HlY0130_provenance.
- NP961869.RArdRiT59mkRUypBRmtJ2ZKBnWnF184LS5yqwwQU5HlY0130_assertion SIO_000772 23298686 NP961869.RArdRiT59mkRUypBRmtJ2ZKBnWnF184LS5yqwwQU5HlY0130_provenance.
- NP961869.RArdRiT59mkRUypBRmtJ2ZKBnWnF184LS5yqwwQU5HlY0130_assertion wasDerivedFrom befree-20150227 NP961869.RArdRiT59mkRUypBRmtJ2ZKBnWnF184LS5yqwwQU5HlY0130_provenance.
- NP961869.RArdRiT59mkRUypBRmtJ2ZKBnWnF184LS5yqwwQU5HlY0130_assertion wasGeneratedBy ECO_0000203 NP961869.RArdRiT59mkRUypBRmtJ2ZKBnWnF184LS5yqwwQU5HlY0130_provenance.
- befree-20150227 importedOn "2015-02-27" NP961869.RArdRiT59mkRUypBRmtJ2ZKBnWnF184LS5yqwwQU5HlY0130_provenance.