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Published in 2022 at "Biomedicines"
DOI: 10.3390/biomedicines10082044
Abstract: Neurofibromin is engaged in many cellular processes and when the proper protein functioning is impaired, it causes neurofibromatosis type 1 (NF1), one of the most common inherited neurological disorders. Recent advances in sequencing and screening…
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Keywords:
identification germinal;
germinal neurofibromin;
neurofibromin hotspots;