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   Articles with "inconsistent interpretations" as a keyword



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Characterization of Two Deep Intronic Variants on the β-Globin Gene with Inconsistent Interpretations of Clinical Significance

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recommendations! Published in 2018 at "Hemoglobin"

DOI: 10.1080/03630269.2018.1473255

Abstract: Abstract Sequence variants located in the introns of the β-globin gene may affect the mRNA processing and cause β-thalassemia (β-thal). Sequence variants that change one of the invariant dinucleotides at the exon-intron boundaries may have… read more here.

Keywords: inconsistent interpretations; globin gene; sequence variants; intronic variants ... See more keywords