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- source_evidence_literature type ECO_0000212 NP707726.RASEfRAnH_4SZvA39BshQi3CEumK5OnfDEGEa6sZzps5A130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP707726.RASEfRAnH_4SZvA39BshQi3CEumK5OnfDEGEa6sZzps5A130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP707726.RASEfRAnH_4SZvA39BshQi3CEumK5OnfDEGEa6sZzps5A130_provenance.
- NP707726.RASEfRAnH_4SZvA39BshQi3CEumK5OnfDEGEa6sZzps5A130_assertion description "[Remarkably, careful review of the clinical data showed that mutations in RPL5 are associated with multiple physical abnormalities, including craniofacial, thumb, and heart anomalies, whereas isolated thumb malformations are predominantly present in patients carrying mutations in RPL11.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP707726.RASEfRAnH_4SZvA39BshQi3CEumK5OnfDEGEa6sZzps5A130_provenance.
- NP707726.RASEfRAnH_4SZvA39BshQi3CEumK5OnfDEGEa6sZzps5A130_assertion evidence source_evidence_literature NP707726.RASEfRAnH_4SZvA39BshQi3CEumK5OnfDEGEa6sZzps5A130_provenance.
- NP707726.RASEfRAnH_4SZvA39BshQi3CEumK5OnfDEGEa6sZzps5A130_assertion SIO_000772 19061985 NP707726.RASEfRAnH_4SZvA39BshQi3CEumK5OnfDEGEa6sZzps5A130_provenance.
- NP707726.RASEfRAnH_4SZvA39BshQi3CEumK5OnfDEGEa6sZzps5A130_assertion wasDerivedFrom befree-2016 NP707726.RASEfRAnH_4SZvA39BshQi3CEumK5OnfDEGEa6sZzps5A130_provenance.
- NP707726.RASEfRAnH_4SZvA39BshQi3CEumK5OnfDEGEa6sZzps5A130_assertion wasGeneratedBy ECO_0000203 NP707726.RASEfRAnH_4SZvA39BshQi3CEumK5OnfDEGEa6sZzps5A130_provenance.
- befree-2016 importedOn "2016-02-19" NP707726.RASEfRAnH_4SZvA39BshQi3CEumK5OnfDEGEa6sZzps5A130_provenance.