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Papers matching “variant pathogenicity” 5

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Characterization of a novel SERPINA1 variant carrying two missense mutations: molecular mechanisms and functional impact
2025 Figshare other Biochemistry, Genetics and Molecular Biology Protease and Inhibitor Mechanisms Open access

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A rare missense variant impacting NEK1 kinase function is associated with ALS
2026 Figshare other Medicine Amyotrophic Lateral Sclerosis Research Open access

Dávid Brenner, Anna Ponomarenko, Iris Petrut, Sofia Beyrle, Matilde Contardo, Isabel Loss, +25 more

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Data from Functional Analysis Identifies Damaging CHEK2 Missense Variants Associated with Increased Cancer Risk
2023 other Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access

Rick A.C.M. Boonen, Wouter W. Wiegant, Nandi Celosse, Bas Vroling, Stephan Heijl, Zsofia Kote‐Jarai, +10 more

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Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders
2026 Figshare other Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access

Beatrice Valtorta, Reza Maroofian, Aveeva Herold, Irem Karagoz, Maha Saad Zaki, Denisa Bronišová, +26 more

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Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report
2026 Figshare other 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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