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- source_evidence_literature type ECO_0000212 NP559289.RAHwjuO2bHafcUik7P5CsbKGsymmDE4roOpdA5ZOBTXHg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP559289.RAHwjuO2bHafcUik7P5CsbKGsymmDE4roOpdA5ZOBTXHg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP559289.RAHwjuO2bHafcUik7P5CsbKGsymmDE4roOpdA5ZOBTXHg130_provenance.
- NP559289.RAHwjuO2bHafcUik7P5CsbKGsymmDE4roOpdA5ZOBTXHg130_assertion description "[DNA sequence analysis of the exons encoding the transmembrane and juxtamembrane domains of EPOR, MPL, and GCSFR, and comparison with germline DNA derived from buccal swabs, identified a somatic activating mutation in the transmembrane domain of MPL (W515L) in 9% (4/45) of JAKV617F-negative MF.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP559289.RAHwjuO2bHafcUik7P5CsbKGsymmDE4roOpdA5ZOBTXHg130_provenance.
- NP559289.RAHwjuO2bHafcUik7P5CsbKGsymmDE4roOpdA5ZOBTXHg130_assertion evidence source_evidence_literature NP559289.RAHwjuO2bHafcUik7P5CsbKGsymmDE4roOpdA5ZOBTXHg130_provenance.
- NP559289.RAHwjuO2bHafcUik7P5CsbKGsymmDE4roOpdA5ZOBTXHg130_assertion SIO_000772 16834459 NP559289.RAHwjuO2bHafcUik7P5CsbKGsymmDE4roOpdA5ZOBTXHg130_provenance.
- NP559289.RAHwjuO2bHafcUik7P5CsbKGsymmDE4roOpdA5ZOBTXHg130_assertion wasDerivedFrom befree-2016 NP559289.RAHwjuO2bHafcUik7P5CsbKGsymmDE4roOpdA5ZOBTXHg130_provenance.
- NP559289.RAHwjuO2bHafcUik7P5CsbKGsymmDE4roOpdA5ZOBTXHg130_assertion wasGeneratedBy ECO_0000203 NP559289.RAHwjuO2bHafcUik7P5CsbKGsymmDE4roOpdA5ZOBTXHg130_provenance.
- befree-2016 importedOn "2016-02-19" NP559289.RAHwjuO2bHafcUik7P5CsbKGsymmDE4roOpdA5ZOBTXHg130_provenance.