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- source_evidence_literature type ECO_0000212 NP839400.RAl7S-nUs3UL5GIJs5xsg1SgedNm316hAWQuf9UxJ-OuI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP839400.RAl7S-nUs3UL5GIJs5xsg1SgedNm316hAWQuf9UxJ-OuI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP839400.RAl7S-nUs3UL5GIJs5xsg1SgedNm316hAWQuf9UxJ-OuI130_provenance.
- befree-20150227 importedOn "2015-02-27" NP839400.RAl7S-nUs3UL5GIJs5xsg1SgedNm316hAWQuf9UxJ-OuI130_provenance.
- NP839400.RAl7S-nUs3UL5GIJs5xsg1SgedNm316hAWQuf9UxJ-OuI130_assertion wasGeneratedBy ECO_0000203 NP839400.RAl7S-nUs3UL5GIJs5xsg1SgedNm316hAWQuf9UxJ-OuI130_provenance.
- NP839400.RAl7S-nUs3UL5GIJs5xsg1SgedNm316hAWQuf9UxJ-OuI130_assertion wasDerivedFrom befree-20150227 NP839400.RAl7S-nUs3UL5GIJs5xsg1SgedNm316hAWQuf9UxJ-OuI130_provenance.
- NP839400.RAl7S-nUs3UL5GIJs5xsg1SgedNm316hAWQuf9UxJ-OuI130_assertion SIO_000772 9633819 NP839400.RAl7S-nUs3UL5GIJs5xsg1SgedNm316hAWQuf9UxJ-OuI130_provenance.
- NP839400.RAl7S-nUs3UL5GIJs5xsg1SgedNm316hAWQuf9UxJ-OuI130_assertion evidence source_evidence_literature NP839400.RAl7S-nUs3UL5GIJs5xsg1SgedNm316hAWQuf9UxJ-OuI130_provenance.
- NP839400.RAl7S-nUs3UL5GIJs5xsg1SgedNm316hAWQuf9UxJ-OuI130_assertion description "[The associated genetic defects characterized revealed compound heterozygosity for a splice defect leading to skipping of exon 8, due to a G-->A transition at position -1 of the exon 8 splice donor site, and a point mutation leading to a Hisl08Pro change (CAT-->CCT) in two patients (siblings) with mild CESD phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP839400.RAl7S-nUs3UL5GIJs5xsg1SgedNm316hAWQuf9UxJ-OuI130_provenance.