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- source_evidence_literature type ECO_0000212 NP927255.RAOXZ5_fUDamkGpV4cM1Y6kG1Qk8hc2xM62mazcr7fay0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP927255.RAOXZ5_fUDamkGpV4cM1Y6kG1Qk8hc2xM62mazcr7fay0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP927255.RAOXZ5_fUDamkGpV4cM1Y6kG1Qk8hc2xM62mazcr7fay0130_provenance.
- NP927255.RAOXZ5_fUDamkGpV4cM1Y6kG1Qk8hc2xM62mazcr7fay0130_assertion wasGeneratedBy ECO_0000203 NP927255.RAOXZ5_fUDamkGpV4cM1Y6kG1Qk8hc2xM62mazcr7fay0130_provenance.
- NP927255.RAOXZ5_fUDamkGpV4cM1Y6kG1Qk8hc2xM62mazcr7fay0130_assertion wasDerivedFrom befree-20140225 NP927255.RAOXZ5_fUDamkGpV4cM1Y6kG1Qk8hc2xM62mazcr7fay0130_provenance.
- NP927255.RAOXZ5_fUDamkGpV4cM1Y6kG1Qk8hc2xM62mazcr7fay0130_assertion SIO_000772 19876931 NP927255.RAOXZ5_fUDamkGpV4cM1Y6kG1Qk8hc2xM62mazcr7fay0130_provenance.
- NP927255.RAOXZ5_fUDamkGpV4cM1Y6kG1Qk8hc2xM62mazcr7fay0130_assertion evidence source_evidence_literature NP927255.RAOXZ5_fUDamkGpV4cM1Y6kG1Qk8hc2xM62mazcr7fay0130_provenance.
- NP927255.RAOXZ5_fUDamkGpV4cM1Y6kG1Qk8hc2xM62mazcr7fay0130_assertion description "[The complex hindbrain malformation that is characteristic of JBTS can be identified on axial magnetic resonance imaging and is known as the molar tooth sign (MTS); other diagnostic criteria include intellectual disability, hypotonia, and often, abnormal respiratory pattern and/or abnormal eye movements.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP927255.RAOXZ5_fUDamkGpV4cM1Y6kG1Qk8hc2xM62mazcr7fay0130_provenance.
- befree-20140225 importedOn "2014-02-25" NP927255.RAOXZ5_fUDamkGpV4cM1Y6kG1Qk8hc2xM62mazcr7fay0130_provenance.