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- source_evidence_literature type ECO_0000212 NP545163.RAWeT2uki6sieMmmUfHEW96IMDWWWj3bqhkzMrJtqnCHE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP545163.RAWeT2uki6sieMmmUfHEW96IMDWWWj3bqhkzMrJtqnCHE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP545163.RAWeT2uki6sieMmmUfHEW96IMDWWWj3bqhkzMrJtqnCHE130_provenance.
- NP545163.RAWeT2uki6sieMmmUfHEW96IMDWWWj3bqhkzMrJtqnCHE130_assertion description "[Although mutations in eight different genes (EDNRB, EDN3, ECE1, SOX10, RET, GDNF, NTN, SIP1) have been identified in affected individuals, it is now clear that RET and EDNRB are the primary genes implicated in the etiology of HSCR.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP545163.RAWeT2uki6sieMmmUfHEW96IMDWWWj3bqhkzMrJtqnCHE130_provenance.
- NP545163.RAWeT2uki6sieMmmUfHEW96IMDWWWj3bqhkzMrJtqnCHE130_assertion evidence source_evidence_literature NP545163.RAWeT2uki6sieMmmUfHEW96IMDWWWj3bqhkzMrJtqnCHE130_provenance.
- NP545163.RAWeT2uki6sieMmmUfHEW96IMDWWWj3bqhkzMrJtqnCHE130_assertion SIO_000772 16618617 NP545163.RAWeT2uki6sieMmmUfHEW96IMDWWWj3bqhkzMrJtqnCHE130_provenance.
- NP545163.RAWeT2uki6sieMmmUfHEW96IMDWWWj3bqhkzMrJtqnCHE130_assertion wasDerivedFrom befree-2016 NP545163.RAWeT2uki6sieMmmUfHEW96IMDWWWj3bqhkzMrJtqnCHE130_provenance.
- NP545163.RAWeT2uki6sieMmmUfHEW96IMDWWWj3bqhkzMrJtqnCHE130_assertion wasGeneratedBy ECO_0000203 NP545163.RAWeT2uki6sieMmmUfHEW96IMDWWWj3bqhkzMrJtqnCHE130_provenance.
- befree-2016 importedOn "2016-02-19" NP545163.RAWeT2uki6sieMmmUfHEW96IMDWWWj3bqhkzMrJtqnCHE130_provenance.