A novel de novo truncating variant in a Hungarian patient with CTNNB1 neurodevelopmental disorder

Nagy Nikoletta and Pál Margit and Nagy Dóra and Bokor Barbara Anna and Zimmermann Aliz and Gellén Balázs and Salamon András and Sztriha László and Klivényi Péter and Széll Márta: A novel de novo truncating variant in a Hungarian patient with CTNNB1 neurodevelopmental disorder.
BMC PEDIATRICS, 24 (1). ISSN 1471-2431 (2024)

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Item Type: Journal Article
Journal or Publication Title: BMC PEDIATRICS
Date: 2024
Volume: 24
Number: 1
Number of Pages: 6
Publication identifier: 47
ISSN: 1471-2431
Faculty/Unit: Albert Szent-Györgyi Medical School
Institution: Szegedi Tudományegyetem
Language: English
MTMT rekordazonosító: 34505540
DOI azonosító: https://doi.org/10.1186/s12887-023-04509-w
Date Deposited: 2024. Apr. 10. 08:57
Last Modified: 2024. Apr. 10. 08:57
URI: http://publicatio.bibl.u-szeged.hu/id/eprint/30089

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