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Xenophontos Maria

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Open access Sep 2026

Analyzing globin gene variation in gnomAD: implications for variant interpretation in hemoglobinopathies

Background Given the augmented sampling and ancestry stratification of the Genome Aggregation Database (gnomAD) v4.1 compared to v2.1.1, population evidence for globin gene variants was assessed for changes in the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) c...

Kontopoulou Mikaella, Xenophontos Maria, Lederer Carsten Werner et al. · 0 citations

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