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- source_evidence_literature type ECO_0000212 NP522063.RABAW_2afj9g9JL2Y6YGEa4x0DWXCjmB8M0liIV2wOEoE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP522063.RABAW_2afj9g9JL2Y6YGEa4x0DWXCjmB8M0liIV2wOEoE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP522063.RABAW_2afj9g9JL2Y6YGEa4x0DWXCjmB8M0liIV2wOEoE130_provenance.
- NP522063.RABAW_2afj9g9JL2Y6YGEa4x0DWXCjmB8M0liIV2wOEoE130_assertion description "[Here we report the mutation analysis of the GJB1 gene in 76 subjects with possible CMT1 and absence of 17p11.2 duplication, and in 38 CMT2 patients without mutations in CMT2-associated-genes, selected from a cohort of 684 patients with peripheral sensory-motor neuropathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP522063.RABAW_2afj9g9JL2Y6YGEa4x0DWXCjmB8M0liIV2wOEoE130_provenance.
- NP522063.RABAW_2afj9g9JL2Y6YGEa4x0DWXCjmB8M0liIV2wOEoE130_assertion evidence source_evidence_literature NP522063.RABAW_2afj9g9JL2Y6YGEa4x0DWXCjmB8M0liIV2wOEoE130_provenance.
- NP522063.RABAW_2afj9g9JL2Y6YGEa4x0DWXCjmB8M0liIV2wOEoE130_assertion SIO_000772 18379723 NP522063.RABAW_2afj9g9JL2Y6YGEa4x0DWXCjmB8M0liIV2wOEoE130_provenance.
- NP522063.RABAW_2afj9g9JL2Y6YGEa4x0DWXCjmB8M0liIV2wOEoE130_assertion wasDerivedFrom befree-20140225 NP522063.RABAW_2afj9g9JL2Y6YGEa4x0DWXCjmB8M0liIV2wOEoE130_provenance.
- NP522063.RABAW_2afj9g9JL2Y6YGEa4x0DWXCjmB8M0liIV2wOEoE130_assertion wasGeneratedBy ECO_0000203 NP522063.RABAW_2afj9g9JL2Y6YGEa4x0DWXCjmB8M0liIV2wOEoE130_provenance.
- befree-20140225 importedOn "2014-02-25" NP522063.RABAW_2afj9g9JL2Y6YGEa4x0DWXCjmB8M0liIV2wOEoE130_provenance.