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- source_evidence_literature type ECO_0000212 NP235089.RAQ_I-lSzSpscG7UzemQoWKj96AO50Iz59JkRO3AzGMAU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP235089.RAQ_I-lSzSpscG7UzemQoWKj96AO50Iz59JkRO3AzGMAU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP235089.RAQ_I-lSzSpscG7UzemQoWKj96AO50Iz59JkRO3AzGMAU130_provenance.
- NP235089.RAQ_I-lSzSpscG7UzemQoWKj96AO50Iz59JkRO3AzGMAU130_assertion description "[4 large novel deletions in ALK1 gene in a group of 45 clinically confirmed hereditary haemorrhagic telangiectasia families/families, the whole ALK1 gene was deleted/spanned at least 216 kb & included LOC728503, ANKRD33, ACVR1B, GRASP, & NR4A1 ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP235089.RAQ_I-lSzSpscG7UzemQoWKj96AO50Iz59JkRO3AzGMAU130_provenance.
- NP235089.RAQ_I-lSzSpscG7UzemQoWKj96AO50Iz59JkRO3AzGMAU130_assertion evidence source_evidence_literature NP235089.RAQ_I-lSzSpscG7UzemQoWKj96AO50Iz59JkRO3AzGMAU130_provenance.
- NP235089.RAQ_I-lSzSpscG7UzemQoWKj96AO50Iz59JkRO3AzGMAU130_assertion SIO_000772 18312453 NP235089.RAQ_I-lSzSpscG7UzemQoWKj96AO50Iz59JkRO3AzGMAU130_provenance.
- NP235089.RAQ_I-lSzSpscG7UzemQoWKj96AO50Iz59JkRO3AzGMAU130_assertion wasDerivedFrom lhgdn-20090331 NP235089.RAQ_I-lSzSpscG7UzemQoWKj96AO50Iz59JkRO3AzGMAU130_provenance.
- NP235089.RAQ_I-lSzSpscG7UzemQoWKj96AO50Iz59JkRO3AzGMAU130_assertion wasGeneratedBy ECO_0000203 NP235089.RAQ_I-lSzSpscG7UzemQoWKj96AO50Iz59JkRO3AzGMAU130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP235089.RAQ_I-lSzSpscG7UzemQoWKj96AO50Iz59JkRO3AzGMAU130_provenance.