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- source_evidence_literature type ECO_0000212 NP942252.RA-Sc_pnEotDdNOC_D9M7oUjVwNoU4c4rk-SgDlPWS8iA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP942252.RA-Sc_pnEotDdNOC_D9M7oUjVwNoU4c4rk-SgDlPWS8iA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP942252.RA-Sc_pnEotDdNOC_D9M7oUjVwNoU4c4rk-SgDlPWS8iA130_provenance.
- befree-2016 importedOn "2016-02-19" NP942252.RA-Sc_pnEotDdNOC_D9M7oUjVwNoU4c4rk-SgDlPWS8iA130_provenance.
- NP942252.RA-Sc_pnEotDdNOC_D9M7oUjVwNoU4c4rk-SgDlPWS8iA130_assertion wasGeneratedBy ECO_0000203 NP942252.RA-Sc_pnEotDdNOC_D9M7oUjVwNoU4c4rk-SgDlPWS8iA130_provenance.
- NP942252.RA-Sc_pnEotDdNOC_D9M7oUjVwNoU4c4rk-SgDlPWS8iA130_assertion wasDerivedFrom befree-2016 NP942252.RA-Sc_pnEotDdNOC_D9M7oUjVwNoU4c4rk-SgDlPWS8iA130_provenance.
- NP942252.RA-Sc_pnEotDdNOC_D9M7oUjVwNoU4c4rk-SgDlPWS8iA130_assertion SIO_000772 22121117 NP942252.RA-Sc_pnEotDdNOC_D9M7oUjVwNoU4c4rk-SgDlPWS8iA130_provenance.
- NP942252.RA-Sc_pnEotDdNOC_D9M7oUjVwNoU4c4rk-SgDlPWS8iA130_assertion evidence source_evidence_literature NP942252.RA-Sc_pnEotDdNOC_D9M7oUjVwNoU4c4rk-SgDlPWS8iA130_provenance.
- NP942252.RA-Sc_pnEotDdNOC_D9M7oUjVwNoU4c4rk-SgDlPWS8iA130_assertion description "[MKS3, encoding the transmembrane receptor meckelin, is mutated in Meckel-Gruber syndrome (MKS), an autosomal-recessive ciliopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP942252.RA-Sc_pnEotDdNOC_D9M7oUjVwNoU4c4rk-SgDlPWS8iA130_provenance.