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- source_evidence_literature type ECO_0000212 NP840013.RA89zHiBys3mKF3yc1H3sIvEleyIFEcAh768CIHJMna2M130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP840013.RA89zHiBys3mKF3yc1H3sIvEleyIFEcAh768CIHJMna2M130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP840013.RA89zHiBys3mKF3yc1H3sIvEleyIFEcAh768CIHJMna2M130_provenance.
- NP840013.RA89zHiBys3mKF3yc1H3sIvEleyIFEcAh768CIHJMna2M130_assertion description "[Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP840013.RA89zHiBys3mKF3yc1H3sIvEleyIFEcAh768CIHJMna2M130_provenance.
- NP840013.RA89zHiBys3mKF3yc1H3sIvEleyIFEcAh768CIHJMna2M130_assertion evidence source_evidence_literature NP840013.RA89zHiBys3mKF3yc1H3sIvEleyIFEcAh768CIHJMna2M130_provenance.
- NP840013.RA89zHiBys3mKF3yc1H3sIvEleyIFEcAh768CIHJMna2M130_assertion SIO_000772 21267004 NP840013.RA89zHiBys3mKF3yc1H3sIvEleyIFEcAh768CIHJMna2M130_provenance.
- NP840013.RA89zHiBys3mKF3yc1H3sIvEleyIFEcAh768CIHJMna2M130_assertion wasDerivedFrom befree-20150227 NP840013.RA89zHiBys3mKF3yc1H3sIvEleyIFEcAh768CIHJMna2M130_provenance.
- NP840013.RA89zHiBys3mKF3yc1H3sIvEleyIFEcAh768CIHJMna2M130_assertion wasGeneratedBy ECO_0000203 NP840013.RA89zHiBys3mKF3yc1H3sIvEleyIFEcAh768CIHJMna2M130_provenance.
- befree-20150227 importedOn "2015-02-27" NP840013.RA89zHiBys3mKF3yc1H3sIvEleyIFEcAh768CIHJMna2M130_provenance.