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    Case Report: Heterozygous ADAR c.3019G>A pathogenic variant associated with variable neurological symptoms and incomplete penetrance in a four-generational family

    Case Report: Heterozygous ADAR c.3019G>A pathogenic variant associated with variable neurological symptoms and incomplete penetrance in a four-generational family by Ann-Kathrin Bauer, Iris Marquardt, Benedikt Sundermann, Christine Wolf, Katrin Raupach, Kathrin Grundmann-Hauser, Laura Gieldon, Maximilian Otterbach, Martin Maurer, Tobias Haack, Min Ae Lee-Kirsch, Georg-Christoph Korenke, Marc-Phillip Hitz

    Published 2025-07-01
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