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

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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

Author: Bauer, Ann-Kathrin; Marquardt, Iris; Sundermann, Benedikt; Wolf, Christine; Raupach, Katrin; Grundmann-Hauser, Kathrin; Gieldon, Laura; Otterbach, Maximilian; Maurer, Martin; Haack, Tobias; Lee-Kirsch, Min Ae; Korenke, Georg-Christoph; Hitz, Marc-Phillip
Tübinger Autor(en):
Raupach, Katrin
Grundmann-Hauser, Kathrin
Haack, Tobias
Published in: Frontiers in Immunology (2025), Bd. 16, Article 1453496
Verlagsangabe: Lausanne : Frontiers Media Sa
Language: English
Full text: http://dx.doi.org/10.3389/fimmu.2025.1453496
ISSN: 1664-3224
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Article
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