Visualitza VHIR - Articles científics per autor "Ockeloen, Charlotte"
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Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein
de Boer, Elke; Ockeloen, Charlotte; Kampen, Rosalie A.; Hampstead, Juliet; Dingemans, Alexander J. M.; Rots, Dmitrijs; Lasa Aranzasti, Amaia (Elsevier, 2022-10)