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Characterization of a novel SERPINA1 variant carrying two missense mutations: molecular mechanisms and functional impact2025 Figshare supplementary-materials Biochemistry, Genetics and Molecular Biology Protease and Inhibitor Mechanisms Open access
Céline Léon, Céline Renoux, Malika Balduyck, Cyril Dourthe, Jean‐William Dupuy, Anne‐Aurélie Raymond, +2 more
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Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders2026 Figshare supplementary-materials Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Beatrice Valtorta, Zuzana Polackova, Reza Maroofian, Aveeva Herold, Irem Karagoz, Maha Saad Zaki, +27 more
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Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report2026 Figshare supplementary-materials Biochemistry, Genetics and Molecular Biology Porphyrin Metabolism and Disorders Open access
Gabriel M. Schacht, Miriam Elbracht, Anna‐Elisabeth Minder, Thomas Stauch, Arzu Stoppe, Eva Lausberg, +1 more
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Chromatin remodelling subunit SMARCB1 is implicated in dendrite development and complex brain functions2026 Figshare supplementary-materials Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Kristina I. Lemke, Alina Filatova, Joanna Chiang, Hannah North, Myrthe R. M. Kamphof, Michaela Becker-Röck, +4 more
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