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Constitutional Mosaicism of Pathogenic Variants in SMARCB1 in a Subset of Patients with Sporadic Rhabdoid Tumors

Lara S. Fleischmann,Karolina Nemes,Selina Glaser,Alexandra G. Kouroukli, Matej Boros,Susanne Bens,Sonja Dahlum,Helene Kretzmer,Florian Oyen,Joachim Gerss,Martin Hasselblatt,Michael C. Fruehwald,Reiner Siebert

Neuro-oncology（2025）

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关键词
constitutional mosaicism,rhabdoid tumors,SMARCB1,ultra-deep sequencing
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