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Journal: Biomedicines, 2025
Volume: 13
Number: 146
Article:
Increased Phenotype Severity Associated with Splice-Site Variants in a Hungarian Pediatric Neurofibromatosis 1 Cohort: A Retrospective Study
Authors:
by
Klára Veres, Benedek Nagy, Zsófia Ember, Judit Bene, Kinga Hadzsiev, Márta Medvecz, László Szabó and Zsuzsanna Zsófia Szalai
Link:
https://www.mdpi.com/2227-9059/13/1/146
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