Showing 1 - 2 results of 2 for search '"splice-site mutations"', query time: 0.02s Refine Results
  1. 1
    Increased Phenotype Severity Associated with Splice-Site Variants in a Hungarian Pediatric Neurofibromatosis 1 Cohort: A Retrospective Study

    Increased Phenotype Severity Associated with Splice-Site Variants in a Hungarian Pediatric Neurofibromatosis 1 Cohort: A Retrospective Study by Klára Veres, Benedek Nagy, Zsófia Ember, Judit Bene, Kinga Hadzsiev, Márta Medvecz, László Szabó, Zsuzsanna Zsófia Szalai

    Published 2025-01-01
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  2. 2
    Characterization of a WAS splice-site variant in a patient with Wiskott-Aldrich syndrome

    Characterization of a WAS splice-site variant in a patient with Wiskott-Aldrich syndrome by Elisabetta Toriello, Rosa Maritato, Antonio De Rosa, Maria Valeria Esposito, Carla Damiano, Carla Damiano, Carmen Rosano, Emilia Cirillo, Antonietta Tarallo, Antonietta Tarallo, Cosimo Abagnale, Francesca Cillo, Roberta Romano, Laura Grilli, Marika Comegna, Marika Comegna, Giancarlo Blasio, Giancarlo Parenti, Giancarlo Parenti, Enrico Maria Surace, Giuseppe Castaldo, Giuseppe Castaldo, Claudio Pignata, Giuliana Giardino

    Published 2025-01-01
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