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- source_evidence_literature type ECO_0000212 NP715829.RAxMlJI_S5gCinF2uWr8-V2ZugH6Gyrvzeokg9ha4QlQI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP715829.RAxMlJI_S5gCinF2uWr8-V2ZugH6Gyrvzeokg9ha4QlQI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP715829.RAxMlJI_S5gCinF2uWr8-V2ZugH6Gyrvzeokg9ha4QlQI130_provenance.
- NP715829.RAxMlJI_S5gCinF2uWr8-V2ZugH6Gyrvzeokg9ha4QlQI130_assertion description "[Heterozygosity for mutations in the TGFBR1 or TGFBR2 genes cause Loeys-Dietz syndrome (LDS) types 2A and 2B that overlap with MFS1 in their clinical features.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP715829.RAxMlJI_S5gCinF2uWr8-V2ZugH6Gyrvzeokg9ha4QlQI130_provenance.
- NP715829.RAxMlJI_S5gCinF2uWr8-V2ZugH6Gyrvzeokg9ha4QlQI130_assertion evidence source_evidence_literature NP715829.RAxMlJI_S5gCinF2uWr8-V2ZugH6Gyrvzeokg9ha4QlQI130_provenance.
- NP715829.RAxMlJI_S5gCinF2uWr8-V2ZugH6Gyrvzeokg9ha4QlQI130_assertion SIO_000772 19159394 NP715829.RAxMlJI_S5gCinF2uWr8-V2ZugH6Gyrvzeokg9ha4QlQI130_provenance.
- NP715829.RAxMlJI_S5gCinF2uWr8-V2ZugH6Gyrvzeokg9ha4QlQI130_assertion wasDerivedFrom befree-2016 NP715829.RAxMlJI_S5gCinF2uWr8-V2ZugH6Gyrvzeokg9ha4QlQI130_provenance.
- NP715829.RAxMlJI_S5gCinF2uWr8-V2ZugH6Gyrvzeokg9ha4QlQI130_assertion wasGeneratedBy ECO_0000203 NP715829.RAxMlJI_S5gCinF2uWr8-V2ZugH6Gyrvzeokg9ha4QlQI130_provenance.
- befree-2016 importedOn "2016-02-19" NP715829.RAxMlJI_S5gCinF2uWr8-V2ZugH6Gyrvzeokg9ha4QlQI130_provenance.