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- source_evidence_literature type ECO_0000212 NP335770.RAWElXeAShx3lrxYJbLL0qB7f5kmERZJUhebC2qdwIopk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP335770.RAWElXeAShx3lrxYJbLL0qB7f5kmERZJUhebC2qdwIopk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP335770.RAWElXeAShx3lrxYJbLL0qB7f5kmERZJUhebC2qdwIopk130_provenance.
- NP335770.RAWElXeAShx3lrxYJbLL0qB7f5kmERZJUhebC2qdwIopk130_assertion description "[We describe the implementation of reverse dot blot (RDB) hybridization as a rapid nonradioactive method for the identification of six frequent globin gene point mutations in the Mediterranean population: alpha(Hph)alpha: alpha2 IVS I donor site GGTGAGG --> GG-----; alpha(NcoI)alpha: alpha2 initiation codon ATG --> ACG; alpha(TSaudi)alpha: alpha2Poly A signal AATAA --> AATAAG; alpha(Icaria)alpha: alpha2 termination codon TAA --> AAA (Ter --> LYS); alpha(CS)alpha: alpha2 termination codon TAA --> CAA (Ter --> gly); alphaalpha(NcoI): alpha1 initiation codon ATG --> GTG; and three alpha2 globin gene point mutations found in immigrants in Italy: alpha(T-Quongsze)alpha: alpha2 codon 12 CTG --> CCG (Leu --> Pro); alpha(Seal Rock)alpha: alpha2 termination codon TAA --> GAA (TER --> GLU); and alpha(Koyadora)alpha: alpha2 termination codon TAA --> TCA (TER --> SER).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP335770.RAWElXeAShx3lrxYJbLL0qB7f5kmERZJUhebC2qdwIopk130_provenance.
- NP335770.RAWElXeAShx3lrxYJbLL0qB7f5kmERZJUhebC2qdwIopk130_assertion evidence source_evidence_literature NP335770.RAWElXeAShx3lrxYJbLL0qB7f5kmERZJUhebC2qdwIopk130_provenance.
- NP335770.RAWElXeAShx3lrxYJbLL0qB7f5kmERZJUhebC2qdwIopk130_assertion SIO_000772 14587048 NP335770.RAWElXeAShx3lrxYJbLL0qB7f5kmERZJUhebC2qdwIopk130_provenance.
- NP335770.RAWElXeAShx3lrxYJbLL0qB7f5kmERZJUhebC2qdwIopk130_assertion wasDerivedFrom befree-20140225 NP335770.RAWElXeAShx3lrxYJbLL0qB7f5kmERZJUhebC2qdwIopk130_provenance.
- NP335770.RAWElXeAShx3lrxYJbLL0qB7f5kmERZJUhebC2qdwIopk130_assertion wasGeneratedBy ECO_0000203 NP335770.RAWElXeAShx3lrxYJbLL0qB7f5kmERZJUhebC2qdwIopk130_provenance.
- befree-20140225 importedOn "2014-02-25" NP335770.RAWElXeAShx3lrxYJbLL0qB7f5kmERZJUhebC2qdwIopk130_provenance.