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- source_evidence_literature type ECO_0000212 NP700940.RAV4leNMJlDz3R6wGb-pRCcZjJQ51YRm-HufEvqZewnrg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP700940.RAV4leNMJlDz3R6wGb-pRCcZjJQ51YRm-HufEvqZewnrg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP700940.RAV4leNMJlDz3R6wGb-pRCcZjJQ51YRm-HufEvqZewnrg130_provenance.
- NP700940.RAV4leNMJlDz3R6wGb-pRCcZjJQ51YRm-HufEvqZewnrg130_assertion description "[The purpose of the present study was to analyse these findings among the French population and to investigate whether common polymorphisms in genes of the folate and homocysteine pathway, including the MTHFR 677C > T, MTHFR 1298A > C, the methionine synthase (MTR) 2756A > G, the cystathionine beta-synthase (CBS) 844Ins68 and the reduced folate carrier (RFC-1) 80G > A polymorphisms, contribute to the risk of trisomy 21.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP700940.RAV4leNMJlDz3R6wGb-pRCcZjJQ51YRm-HufEvqZewnrg130_provenance.
- NP700940.RAV4leNMJlDz3R6wGb-pRCcZjJQ51YRm-HufEvqZewnrg130_assertion evidence source_evidence_literature NP700940.RAV4leNMJlDz3R6wGb-pRCcZjJQ51YRm-HufEvqZewnrg130_provenance.
- NP700940.RAV4leNMJlDz3R6wGb-pRCcZjJQ51YRm-HufEvqZewnrg130_assertion SIO_000772 16115349 NP700940.RAV4leNMJlDz3R6wGb-pRCcZjJQ51YRm-HufEvqZewnrg130_provenance.
- NP700940.RAV4leNMJlDz3R6wGb-pRCcZjJQ51YRm-HufEvqZewnrg130_assertion wasDerivedFrom befree-20150227 NP700940.RAV4leNMJlDz3R6wGb-pRCcZjJQ51YRm-HufEvqZewnrg130_provenance.
- NP700940.RAV4leNMJlDz3R6wGb-pRCcZjJQ51YRm-HufEvqZewnrg130_assertion wasGeneratedBy ECO_0000203 NP700940.RAV4leNMJlDz3R6wGb-pRCcZjJQ51YRm-HufEvqZewnrg130_provenance.
- befree-20150227 importedOn "2015-02-27" NP700940.RAV4leNMJlDz3R6wGb-pRCcZjJQ51YRm-HufEvqZewnrg130_provenance.