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- source_evidence_literature type ECO_0000212 NP806887.RAFHPTQhbvk6JIFuzaA_X3ckfpku-r8-gtpy1OyZxnRqk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP806887.RAFHPTQhbvk6JIFuzaA_X3ckfpku-r8-gtpy1OyZxnRqk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP806887.RAFHPTQhbvk6JIFuzaA_X3ckfpku-r8-gtpy1OyZxnRqk130_provenance.
- befree-20150227 importedOn "2015-02-27" NP806887.RAFHPTQhbvk6JIFuzaA_X3ckfpku-r8-gtpy1OyZxnRqk130_provenance.
- NP806887.RAFHPTQhbvk6JIFuzaA_X3ckfpku-r8-gtpy1OyZxnRqk130_assertion wasGeneratedBy ECO_0000203 NP806887.RAFHPTQhbvk6JIFuzaA_X3ckfpku-r8-gtpy1OyZxnRqk130_provenance.
- NP806887.RAFHPTQhbvk6JIFuzaA_X3ckfpku-r8-gtpy1OyZxnRqk130_assertion wasDerivedFrom befree-20150227 NP806887.RAFHPTQhbvk6JIFuzaA_X3ckfpku-r8-gtpy1OyZxnRqk130_provenance.
- NP806887.RAFHPTQhbvk6JIFuzaA_X3ckfpku-r8-gtpy1OyZxnRqk130_assertion SIO_000772 22121117 NP806887.RAFHPTQhbvk6JIFuzaA_X3ckfpku-r8-gtpy1OyZxnRqk130_provenance.
- NP806887.RAFHPTQhbvk6JIFuzaA_X3ckfpku-r8-gtpy1OyZxnRqk130_assertion evidence source_evidence_literature NP806887.RAFHPTQhbvk6JIFuzaA_X3ckfpku-r8-gtpy1OyZxnRqk130_provenance.
- NP806887.RAFHPTQhbvk6JIFuzaA_X3ckfpku-r8-gtpy1OyZxnRqk130_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." NP806887.RAFHPTQhbvk6JIFuzaA_X3ckfpku-r8-gtpy1OyZxnRqk130_provenance.