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Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene

✍ Scribed by Laura Thomas; Mark Richards; Matthew Mort; Elaine Dunlop; David N. Cooper; Meena Upadhyaya


Book ID
115556413
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
441 KB
Volume
33
Category
Article
ISSN
1059-7794

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Communicated by Arthur L. Beaudet Neurofibromatosis type 1 ( N F l ) is one of the most common autosomal dominant disorders, and is due to mutations within the NFI gene on chromosome 17q11.2. Only the middle 400 amino acids of the associated protein (neurofibromin) have a known function, comprising