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[Here we describe a Japanese patient with mild ?-thalassemia (?-thal) with an intact ?-globin gene but a new missense mutation of c.947G?>?A or p.C316Y in the erythroid Kr�ppel-Like Factor (KLF1) gene which is strongly associated with the expression of the ?-globin gene.]. 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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