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- source_evidence_literature type ECO_0000212 NP446507.RA-wmiCT_0A07p42T0Ruidy-msJXeE66OJuL1ADDV2VsQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP446507.RA-wmiCT_0A07p42T0Ruidy-msJXeE66OJuL1ADDV2VsQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP446507.RA-wmiCT_0A07p42T0Ruidy-msJXeE66OJuL1ADDV2VsQ130_provenance.
- NP446507.RA-wmiCT_0A07p42T0Ruidy-msJXeE66OJuL1ADDV2VsQ130_assertion description "[Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP446507.RA-wmiCT_0A07p42T0Ruidy-msJXeE66OJuL1ADDV2VsQ130_provenance.
- NP446507.RA-wmiCT_0A07p42T0Ruidy-msJXeE66OJuL1ADDV2VsQ130_assertion evidence source_evidence_literature NP446507.RA-wmiCT_0A07p42T0Ruidy-msJXeE66OJuL1ADDV2VsQ130_provenance.
- NP446507.RA-wmiCT_0A07p42T0Ruidy-msJXeE66OJuL1ADDV2VsQ130_assertion SIO_000772 23456229 NP446507.RA-wmiCT_0A07p42T0Ruidy-msJXeE66OJuL1ADDV2VsQ130_provenance.
- NP446507.RA-wmiCT_0A07p42T0Ruidy-msJXeE66OJuL1ADDV2VsQ130_assertion wasDerivedFrom befree-20150227 NP446507.RA-wmiCT_0A07p42T0Ruidy-msJXeE66OJuL1ADDV2VsQ130_provenance.
- NP446507.RA-wmiCT_0A07p42T0Ruidy-msJXeE66OJuL1ADDV2VsQ130_assertion wasGeneratedBy ECO_0000203 NP446507.RA-wmiCT_0A07p42T0Ruidy-msJXeE66OJuL1ADDV2VsQ130_provenance.
- befree-20150227 importedOn "2015-02-27" NP446507.RA-wmiCT_0A07p42T0Ruidy-msJXeE66OJuL1ADDV2VsQ130_provenance.