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- source_evidence_literature type ECO_0000212 NP486906.RAM3DiB2hGP25f-cbks-JkjSEXhGk71AcUMXS07BFivAk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP486906.RAM3DiB2hGP25f-cbks-JkjSEXhGk71AcUMXS07BFivAk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP486906.RAM3DiB2hGP25f-cbks-JkjSEXhGk71AcUMXS07BFivAk130_provenance.
- befree-20150227 importedOn "2015-02-27" NP486906.RAM3DiB2hGP25f-cbks-JkjSEXhGk71AcUMXS07BFivAk130_provenance.
- NP486906.RAM3DiB2hGP25f-cbks-JkjSEXhGk71AcUMXS07BFivAk130_assertion wasGeneratedBy ECO_0000203 NP486906.RAM3DiB2hGP25f-cbks-JkjSEXhGk71AcUMXS07BFivAk130_provenance.
- NP486906.RAM3DiB2hGP25f-cbks-JkjSEXhGk71AcUMXS07BFivAk130_assertion wasDerivedFrom befree-20150227 NP486906.RAM3DiB2hGP25f-cbks-JkjSEXhGk71AcUMXS07BFivAk130_provenance.
- NP486906.RAM3DiB2hGP25f-cbks-JkjSEXhGk71AcUMXS07BFivAk130_assertion SIO_000772 22965130 NP486906.RAM3DiB2hGP25f-cbks-JkjSEXhGk71AcUMXS07BFivAk130_provenance.
- NP486906.RAM3DiB2hGP25f-cbks-JkjSEXhGk71AcUMXS07BFivAk130_assertion evidence source_evidence_literature NP486906.RAM3DiB2hGP25f-cbks-JkjSEXhGk71AcUMXS07BFivAk130_provenance.
- NP486906.RAM3DiB2hGP25f-cbks-JkjSEXhGk71AcUMXS07BFivAk130_assertion description "[Mutations in immunoglobulin µ-binding protein 2 (Ighmbp2) cause distal spinal muscular atrophy type 1 (DSMA1), an autosomal recessive disease that is clinically characterized by distal limb weakness and respiratory distress.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP486906.RAM3DiB2hGP25f-cbks-JkjSEXhGk71AcUMXS07BFivAk130_provenance.