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- source_evidence_literature type ECO_0000212 NP431403.RAsL0rQL4NWpn2oYg-MWeJTBrr8q7Gute_4B61A7K0H-A130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP431403.RAsL0rQL4NWpn2oYg-MWeJTBrr8q7Gute_4B61A7K0H-A130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP431403.RAsL0rQL4NWpn2oYg-MWeJTBrr8q7Gute_4B61A7K0H-A130_provenance.
- NP431403.RAsL0rQL4NWpn2oYg-MWeJTBrr8q7Gute_4B61A7K0H-A130_assertion description "[In order to clarify the reasons for the reduced Hb A2 levels in Sardinian delta beta-thalassemia, we characterized, both by cloning and sequence analysis and by direct sequencing of amplified DNA, the delta-globin gene from an individual of Sardinian descent who is a compound heterozygote for the beta zero-thalassemia codon 39 (C-->T) nonsense mutation and the Sardinian delta beta-thalassemia [codon 39(C-->T)/-196(C-->T)A gamma].]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP431403.RAsL0rQL4NWpn2oYg-MWeJTBrr8q7Gute_4B61A7K0H-A130_provenance.
- NP431403.RAsL0rQL4NWpn2oYg-MWeJTBrr8q7Gute_4B61A7K0H-A130_assertion evidence source_evidence_literature NP431403.RAsL0rQL4NWpn2oYg-MWeJTBrr8q7Gute_4B61A7K0H-A130_provenance.
- NP431403.RAsL0rQL4NWpn2oYg-MWeJTBrr8q7Gute_4B61A7K0H-A130_assertion SIO_000772 1487421 NP431403.RAsL0rQL4NWpn2oYg-MWeJTBrr8q7Gute_4B61A7K0H-A130_provenance.
- NP431403.RAsL0rQL4NWpn2oYg-MWeJTBrr8q7Gute_4B61A7K0H-A130_assertion wasDerivedFrom befree-2016 NP431403.RAsL0rQL4NWpn2oYg-MWeJTBrr8q7Gute_4B61A7K0H-A130_provenance.
- NP431403.RAsL0rQL4NWpn2oYg-MWeJTBrr8q7Gute_4B61A7K0H-A130_assertion wasGeneratedBy ECO_0000203 NP431403.RAsL0rQL4NWpn2oYg-MWeJTBrr8q7Gute_4B61A7K0H-A130_provenance.
- befree-2016 importedOn "2016-02-19" NP431403.RAsL0rQL4NWpn2oYg-MWeJTBrr8q7Gute_4B61A7K0H-A130_provenance.