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[40] [41] Cause [edit] Neurofibromin 1 gene [edit] NF-1 is a microdeletion syndrome caused by a mutation of a gene located on chromosomal segment 17q11.2 on the long arm of chromosome 17 which encodes a protein known as neurofibromin [42] (not to be confused with the disorder itself) which plays a role in cell signaling