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- source_evidence_literature type ECO_0000212 NP608339.RA6WmThy355myBf3Sbw5FEMVEJlcC78vQpfrA5zykJmlo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP608339.RA6WmThy355myBf3Sbw5FEMVEJlcC78vQpfrA5zykJmlo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP608339.RA6WmThy355myBf3Sbw5FEMVEJlcC78vQpfrA5zykJmlo130_provenance.
- befree-20150227 importedOn "2015-02-27" NP608339.RA6WmThy355myBf3Sbw5FEMVEJlcC78vQpfrA5zykJmlo130_provenance.
- NP608339.RA6WmThy355myBf3Sbw5FEMVEJlcC78vQpfrA5zykJmlo130_assertion wasGeneratedBy ECO_0000203 NP608339.RA6WmThy355myBf3Sbw5FEMVEJlcC78vQpfrA5zykJmlo130_provenance.
- NP608339.RA6WmThy355myBf3Sbw5FEMVEJlcC78vQpfrA5zykJmlo130_assertion wasDerivedFrom befree-20150227 NP608339.RA6WmThy355myBf3Sbw5FEMVEJlcC78vQpfrA5zykJmlo130_provenance.
- NP608339.RA6WmThy355myBf3Sbw5FEMVEJlcC78vQpfrA5zykJmlo130_assertion SIO_000772 9731525 NP608339.RA6WmThy355myBf3Sbw5FEMVEJlcC78vQpfrA5zykJmlo130_provenance.
- NP608339.RA6WmThy355myBf3Sbw5FEMVEJlcC78vQpfrA5zykJmlo130_assertion evidence source_evidence_literature NP608339.RA6WmThy355myBf3Sbw5FEMVEJlcC78vQpfrA5zykJmlo130_provenance.
- NP608339.RA6WmThy355myBf3Sbw5FEMVEJlcC78vQpfrA5zykJmlo130_assertion description "[Affected individuals in a multiplex pedigree with MRX (MRX30), previously mapped to Xq22, show a point mutation in the PAK3 (p21-activated kinase) gene, which encodes a serine-threonine kinase.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP608339.RA6WmThy355myBf3Sbw5FEMVEJlcC78vQpfrA5zykJmlo130_provenance.