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[These included (1) T-C substitution at IVS II position 591, a new beta-thalassemia mutation which probably creates an alternative donor splice site in antisense strand; (2) the mutations CoD4 (T-A), CoD5 (C-T), CoD6 (G-T) at cis location; (3) CoD13 (C-T), CoD26 (G-A), CoD 27/28(-C) at cis location; (4) CoD 8 (A-G); (5) CoD30 (G-C); (6) CoD5 (-CT); (7) IVSI-1 (G-A); and (8) FS47/48 (+ATCT).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
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Gene-disease associations inferred from text-mining the literature.
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DisGeNET evidence - LITERATURE
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