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- source_evidence_literature type ECO_0000212 NP502447.RAx193Uma_kCrdprWL7TfBha3XwAOVAVmFJxMpccTc658130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP502447.RAx193Uma_kCrdprWL7TfBha3XwAOVAVmFJxMpccTc658130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP502447.RAx193Uma_kCrdprWL7TfBha3XwAOVAVmFJxMpccTc658130_provenance.
- NP502447.RAx193Uma_kCrdprWL7TfBha3XwAOVAVmFJxMpccTc658130_assertion wasGeneratedBy ECO_0000203 NP502447.RAx193Uma_kCrdprWL7TfBha3XwAOVAVmFJxMpccTc658130_provenance.
- NP502447.RAx193Uma_kCrdprWL7TfBha3XwAOVAVmFJxMpccTc658130_assertion wasDerivedFrom befree-20140225 NP502447.RAx193Uma_kCrdprWL7TfBha3XwAOVAVmFJxMpccTc658130_provenance.
- NP502447.RAx193Uma_kCrdprWL7TfBha3XwAOVAVmFJxMpccTc658130_assertion SIO_000772 17236141 NP502447.RAx193Uma_kCrdprWL7TfBha3XwAOVAVmFJxMpccTc658130_provenance.
- NP502447.RAx193Uma_kCrdprWL7TfBha3XwAOVAVmFJxMpccTc658130_assertion evidence source_evidence_literature NP502447.RAx193Uma_kCrdprWL7TfBha3XwAOVAVmFJxMpccTc658130_provenance.
- NP502447.RAx193Uma_kCrdprWL7TfBha3XwAOVAVmFJxMpccTc658130_assertion description "[Polyalanine expansions in HOXD13 cause synpolydactyly, whereas amino acid substitutions in the homeodomain are associated with brachydactyly types D and E. We describe two large Han Chinese families with different limb malformations, one with syndactyly type V and the other with limb features overlapping brachydactyly types A4, D, and E and mild syndactyly of toes 2 and 3.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP502447.RAx193Uma_kCrdprWL7TfBha3XwAOVAVmFJxMpccTc658130_provenance.
- befree-20140225 importedOn "2014-02-25" NP502447.RAx193Uma_kCrdprWL7TfBha3XwAOVAVmFJxMpccTc658130_provenance.