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Journal: Int. J. Mol. Sci., 2022
Volume: 23
Number: 7382
7382
Article: Homozygosity for a Novel DOCK7 Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Impairment
Authors: by Fatma Kivrak Pfiffner, Samuel Koller, Anika Ménétrey, Urs Graf, Luzy Bähr, Alessandro Maspoli, Annette Hackenberg, Raimund Kottke, Christina Gerth-Kahlert and Wolfgang Berger
Link: https://www.mdpi.com/1422-0067/23/13/7382

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