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- source_evidence_literature type ECO_0000212 NP1071110.RAwl2_jLKsIsmzTXU2Re_l70HaLfw1S1UVv87BS9G8gmo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1071110.RAwl2_jLKsIsmzTXU2Re_l70HaLfw1S1UVv87BS9G8gmo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1071110.RAwl2_jLKsIsmzTXU2Re_l70HaLfw1S1UVv87BS9G8gmo130_provenance.
- NP1071110.RAwl2_jLKsIsmzTXU2Re_l70HaLfw1S1UVv87BS9G8gmo130_assertion description "[Here we report the discovery of multiple pathogenic missense mutations in TUBG1, DYNC1H1 and KIF2A, as well as a single germline mosaic mutation in KIF5C, in subjects with MCD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1071110.RAwl2_jLKsIsmzTXU2Re_l70HaLfw1S1UVv87BS9G8gmo130_provenance.
- NP1071110.RAwl2_jLKsIsmzTXU2Re_l70HaLfw1S1UVv87BS9G8gmo130_assertion evidence source_evidence_literature NP1071110.RAwl2_jLKsIsmzTXU2Re_l70HaLfw1S1UVv87BS9G8gmo130_provenance.
- NP1071110.RAwl2_jLKsIsmzTXU2Re_l70HaLfw1S1UVv87BS9G8gmo130_assertion SIO_000772 23603762 NP1071110.RAwl2_jLKsIsmzTXU2Re_l70HaLfw1S1UVv87BS9G8gmo130_provenance.
- NP1071110.RAwl2_jLKsIsmzTXU2Re_l70HaLfw1S1UVv87BS9G8gmo130_assertion wasDerivedFrom befree-2016 NP1071110.RAwl2_jLKsIsmzTXU2Re_l70HaLfw1S1UVv87BS9G8gmo130_provenance.
- NP1071110.RAwl2_jLKsIsmzTXU2Re_l70HaLfw1S1UVv87BS9G8gmo130_assertion wasGeneratedBy ECO_0000203 NP1071110.RAwl2_jLKsIsmzTXU2Re_l70HaLfw1S1UVv87BS9G8gmo130_provenance.
- befree-2016 importedOn "2016-02-19" NP1071110.RAwl2_jLKsIsmzTXU2Re_l70HaLfw1S1UVv87BS9G8gmo130_provenance.