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- source_evidence_literature type ECO_0000212 NP463378.RANFxX50lG3WgiLZIMnQMaRD-FpHIsucFSRTdaizrTiNQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP463378.RANFxX50lG3WgiLZIMnQMaRD-FpHIsucFSRTdaizrTiNQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP463378.RANFxX50lG3WgiLZIMnQMaRD-FpHIsucFSRTdaizrTiNQ130_provenance.
- befree-20150227 importedOn "2015-02-27" NP463378.RANFxX50lG3WgiLZIMnQMaRD-FpHIsucFSRTdaizrTiNQ130_provenance.
- NP463378.RANFxX50lG3WgiLZIMnQMaRD-FpHIsucFSRTdaizrTiNQ130_assertion wasGeneratedBy ECO_0000203 NP463378.RANFxX50lG3WgiLZIMnQMaRD-FpHIsucFSRTdaizrTiNQ130_provenance.
- NP463378.RANFxX50lG3WgiLZIMnQMaRD-FpHIsucFSRTdaizrTiNQ130_assertion wasDerivedFrom befree-20150227 NP463378.RANFxX50lG3WgiLZIMnQMaRD-FpHIsucFSRTdaizrTiNQ130_provenance.
- NP463378.RANFxX50lG3WgiLZIMnQMaRD-FpHIsucFSRTdaizrTiNQ130_assertion SIO_000772 17236141 NP463378.RANFxX50lG3WgiLZIMnQMaRD-FpHIsucFSRTdaizrTiNQ130_provenance.
- NP463378.RANFxX50lG3WgiLZIMnQMaRD-FpHIsucFSRTdaizrTiNQ130_assertion evidence source_evidence_literature NP463378.RANFxX50lG3WgiLZIMnQMaRD-FpHIsucFSRTdaizrTiNQ130_provenance.
- NP463378.RANFxX50lG3WgiLZIMnQMaRD-FpHIsucFSRTdaizrTiNQ130_assertion description "[In the family with complex brachydactyly and syndactyly, we detected a deletion of 21 bp in the imperfect GCN (where N denotes A, C, G, or T) triplet-containing exon 1 of HOXD13, which results in a polyalanine contraction of seven residues.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP463378.RANFxX50lG3WgiLZIMnQMaRD-FpHIsucFSRTdaizrTiNQ130_provenance.