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Abnormal Biomarkers Predict Complex FAS or FADD Defects Missed by Exome Sequencing.

Anne Rensing-Ehl,Myriam Ricarda Lorenz, Marita Fueurohrer,Wolfgang Willenbacher,Ella Willenbacher,Sieghart Sopper,Mario Abinun,Maria Elena Maccari, Christoph Koeuronig, Pauline Haegele,Sebastian Fuchs,Carla Castro,Patrick Kury,Olivier Pelle,Christian Klemann,Maximilian Heeg,Julian Thalhammer,Oliver Wegehaupt,Marco Fischer,Sigune Goldacker, Bjoeurorn Schulte,Saskia Biskup, Philippe Chatelain,Volker Schuster,Klaus Warnatz,Bodo Grimbacher,Andrea Meinhardt,Dirk Holzinger,Prasad Thomas Oommen,Tanja Hinze,Holger Hebart,Karlheinz Seeger,Kai Lehmberg,Timothy Ronan Leahy, Alexander Claviez,Simon Vieth,Freimut H. Schilling,Ilka Fuchs,Miriam Gross,Frederic Rieux-Laucat,Aude Magerus,Carsten Speckmann,Klaus Schwarz,Stephan Ehl

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY（2024）

Cited 3|Views53
Key words
ALPS,ALPS-U,FAS,FADD,loss of heterozygosity,somatic mutations,promoter,genetic defect accumulation,double- negative T cells,DNT
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