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- source_evidence_literature type ECO_0000212 NP940760.RA4OjY9OP7nXhP3UfNy98p3C-Hwj_9CpwGm_pDo0HfuaM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP940760.RA4OjY9OP7nXhP3UfNy98p3C-Hwj_9CpwGm_pDo0HfuaM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP940760.RA4OjY9OP7nXhP3UfNy98p3C-Hwj_9CpwGm_pDo0HfuaM130_provenance.
- NP940760.RA4OjY9OP7nXhP3UfNy98p3C-Hwj_9CpwGm_pDo0HfuaM130_assertion description "[We identified a previously unrecognized missense mutation at codon 1230 in exon 12 of ASXL1 gene in ET and PV patients (1/9 ET and 1/4 PV).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP940760.RA4OjY9OP7nXhP3UfNy98p3C-Hwj_9CpwGm_pDo0HfuaM130_provenance.
- NP940760.RA4OjY9OP7nXhP3UfNy98p3C-Hwj_9CpwGm_pDo0HfuaM130_assertion evidence source_evidence_literature NP940760.RA4OjY9OP7nXhP3UfNy98p3C-Hwj_9CpwGm_pDo0HfuaM130_provenance.
- NP940760.RA4OjY9OP7nXhP3UfNy98p3C-Hwj_9CpwGm_pDo0HfuaM130_assertion SIO_000772 22106054 NP940760.RA4OjY9OP7nXhP3UfNy98p3C-Hwj_9CpwGm_pDo0HfuaM130_provenance.
- NP940760.RA4OjY9OP7nXhP3UfNy98p3C-Hwj_9CpwGm_pDo0HfuaM130_assertion wasDerivedFrom befree-2016 NP940760.RA4OjY9OP7nXhP3UfNy98p3C-Hwj_9CpwGm_pDo0HfuaM130_provenance.
- NP940760.RA4OjY9OP7nXhP3UfNy98p3C-Hwj_9CpwGm_pDo0HfuaM130_assertion wasGeneratedBy ECO_0000203 NP940760.RA4OjY9OP7nXhP3UfNy98p3C-Hwj_9CpwGm_pDo0HfuaM130_provenance.
- befree-2016 importedOn "2016-02-19" NP940760.RA4OjY9OP7nXhP3UfNy98p3C-Hwj_9CpwGm_pDo0HfuaM130_provenance.