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Second MAFA Variant Causing a Phosphorylation Defect in the Transactivation Domain and Familial Insulinomatosis by Christian Fottner, Stefanie Sollfrank, Mursal Ghiasi, Anke Adenaeuer, Thomas Musholt, Arno Schad, Matthias Miederer, Simin Schadmand-Fischer, Matthias M. Weber, Karl J. Lackner, Heidi Rossmann
Published 2022-04-01
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Novel <i>GATA1</i> Variant Causing a Bleeding Phenotype Associated with Combined Platelet α-/δ-Storage Pool Deficiency and Mild Dyserythropoiesis Modified by a <i>SLC4A1</i> Varian... by Kerstin Jurk, Anke Adenaeuer, Stefanie Sollfrank, Kathrin Groß, Friederike Häuser, Andreas Czwalinna, Josef Erkel, Nele Fritsch, Dana Marandiuc, Martin Schaller, Karl J. Lackner, Heidi Rossmann, Frauke Bergmann
Published 2022-09-01
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