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- source_evidence_literature type ECO_0000212 NP269476.RAFDn6jJJQ59BRL2YbEQdqSlLZN_-G1UKoUjftEeIJlzw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP269476.RAFDn6jJJQ59BRL2YbEQdqSlLZN_-G1UKoUjftEeIJlzw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP269476.RAFDn6jJJQ59BRL2YbEQdqSlLZN_-G1UKoUjftEeIJlzw130_provenance.
- NP269476.RAFDn6jJJQ59BRL2YbEQdqSlLZN_-G1UKoUjftEeIJlzw130_assertion description "[The identical mutation was detected in the CSB gene from both children with COFS syndrome and in both parents of one of the patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP269476.RAFDn6jJJQ59BRL2YbEQdqSlLZN_-G1UKoUjftEeIJlzw130_provenance.
- NP269476.RAFDn6jJJQ59BRL2YbEQdqSlLZN_-G1UKoUjftEeIJlzw130_assertion evidence source_evidence_literature NP269476.RAFDn6jJJQ59BRL2YbEQdqSlLZN_-G1UKoUjftEeIJlzw130_provenance.
- NP269476.RAFDn6jJJQ59BRL2YbEQdqSlLZN_-G1UKoUjftEeIJlzw130_assertion SIO_000772 10739753 NP269476.RAFDn6jJJQ59BRL2YbEQdqSlLZN_-G1UKoUjftEeIJlzw130_provenance.
- NP269476.RAFDn6jJJQ59BRL2YbEQdqSlLZN_-G1UKoUjftEeIJlzw130_assertion wasDerivedFrom befree-20140225 NP269476.RAFDn6jJJQ59BRL2YbEQdqSlLZN_-G1UKoUjftEeIJlzw130_provenance.
- NP269476.RAFDn6jJJQ59BRL2YbEQdqSlLZN_-G1UKoUjftEeIJlzw130_assertion wasGeneratedBy ECO_0000203 NP269476.RAFDn6jJJQ59BRL2YbEQdqSlLZN_-G1UKoUjftEeIJlzw130_provenance.
- befree-20140225 importedOn "2014-02-25" NP269476.RAFDn6jJJQ59BRL2YbEQdqSlLZN_-G1UKoUjftEeIJlzw130_provenance.