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- source_evidence_literature type ECO_0000212 NP407014.RAB-QGWxpFfbXXgrJZ170wnKOpzZ4iRPcjRBCxFcMVBu0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP407014.RAB-QGWxpFfbXXgrJZ170wnKOpzZ4iRPcjRBCxFcMVBu0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP407014.RAB-QGWxpFfbXXgrJZ170wnKOpzZ4iRPcjRBCxFcMVBu0130_provenance.
- NP407014.RAB-QGWxpFfbXXgrJZ170wnKOpzZ4iRPcjRBCxFcMVBu0130_assertion description "[Mutations in FLNA (Xq28) and ARFGEF2 (20q13) are responsible for X-linked bilateral PH and a rare autosomal recessive form of PH with microcephaly.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP407014.RAB-QGWxpFfbXXgrJZ170wnKOpzZ4iRPcjRBCxFcMVBu0130_provenance.
- NP407014.RAB-QGWxpFfbXXgrJZ170wnKOpzZ4iRPcjRBCxFcMVBu0130_assertion evidence source_evidence_literature NP407014.RAB-QGWxpFfbXXgrJZ170wnKOpzZ4iRPcjRBCxFcMVBu0130_provenance.
- NP407014.RAB-QGWxpFfbXXgrJZ170wnKOpzZ4iRPcjRBCxFcMVBu0130_assertion SIO_000772 19073947 NP407014.RAB-QGWxpFfbXXgrJZ170wnKOpzZ4iRPcjRBCxFcMVBu0130_provenance.
- NP407014.RAB-QGWxpFfbXXgrJZ170wnKOpzZ4iRPcjRBCxFcMVBu0130_assertion wasDerivedFrom befree-20150227 NP407014.RAB-QGWxpFfbXXgrJZ170wnKOpzZ4iRPcjRBCxFcMVBu0130_provenance.
- NP407014.RAB-QGWxpFfbXXgrJZ170wnKOpzZ4iRPcjRBCxFcMVBu0130_assertion wasGeneratedBy ECO_0000203 NP407014.RAB-QGWxpFfbXXgrJZ170wnKOpzZ4iRPcjRBCxFcMVBu0130_provenance.
- befree-20150227 importedOn "2015-02-27" NP407014.RAB-QGWxpFfbXXgrJZ170wnKOpzZ4iRPcjRBCxFcMVBu0130_provenance.