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Is There a Dominant‐negative Effect in Individuals with Heterozygous Disease‐causing Variants in COL4A3/COL4A4?

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

CLINICAL GENETICS（2024）

Cited 1|Views23
Key words
Alport syndrome,dominant-negative effect,genotype-phenotype correlation
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