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Is there a dominant-negative effect in individuals with heterozygous disease-causing variants in COL4A3/COL4A4?

Document Type

Journal

Author

Riedhammer, Korbinian M.; Simmendinger, Hannes; Tasic, Velibor; Putnik, Jovana; Abazi-Emini, Nora; Stajic, Natasa; Berutti, Riccardo; Weidenbusch, Marc; Patzer, Ludwig; Lungu, Adrian; Milosevski-Lomic, Gordana; Guenthner, Roman; Braunisch, Matthias C.; Comic, Jasmina; Hoefele, Julia

Source

CLINICAL GENETICS; JAN 12 2024, 9p.

Subject

Language

English

ISSN

13990004

Online Access

Full Text (Wiley Journals) Full Text (Wiley-DB) Web of Science JCR 저널정보 Scopus Find it@PNU

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