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Papers matching “variant interpretation” 5

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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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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

0

citations
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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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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citations
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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