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Results: 2

1.
Figure  1

Figure 1. From: NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome.

Facial characteristics and other clinical features of study individuals with NFNS

Alessandro De Luca, et al. Am J Hum Genet. 2005 December;77(6):1092-1101.
2.
Figure  2

Figure 2. From: NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome.

Three-dimensional model showing location of residues affected by mutations in the neurofibromin GAP-related domain/RAS complex. Ribbon-like structures of neurofibromin GAP-related domain and RAS are shown in green and yellow, respectively. The mutated residues (Lys1423, Asn1430, Val1432, and Glu1438), the catalytic arginine finger (Arg1276), and GDP are represented by sticks and transparent surfaces. Molecular alignment and representation were made with the programs SwissPdb Viewer v. 3.7 (Guex and Peitsch 1997) and PyMOL (DeLano 2002), respectively.

Alessandro De Luca, et al. Am J Hum Genet. 2005 December;77(6):1092-1101.

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