Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848 Magdalena.

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Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848 Magdalena Koczkowska, Yunjia Chen, Tom Callens, Alicia Gomes, Angela Sharp, Sherrell Johnson, Meng-Chang Hsiao, Zhenbin Chen, Meena Balasubramanian, Christopher P. Barnett, Troy A. Becker, Shay Ben-Shachar, Debora R. Bertola, Jaishri O. Blakeley, Emma M.M. Burkitt-Wright, Alison Callaway, Melissa Crenshaw, Karin S. Cunha, Mitch Cunningham, Maria D. D’Agostino, Karin Dahan, Alessandro De Luca, Anne Destrée, Radhika Dhamija, Marica Eoli, D. Gareth R. Evans, Patricia Galvin-Parton, Jaya K. George- Abraham, Karen W. Gripp, Jose Guevara-Campos, Neil A. Hanchard, Concepcion Hernández-Chico, LaDonna Immken, Sandra Janssens, Kristi J. Jones, Beth A. Keena, Aaina Kochhar, Jan Liebelt, Arelis Martir-Negron, Maurice J. Mahoney, Isabelle Maystadt, Carey McDougall, Meriel McEntagart, Nancy Mendelsohn, David T. Miller, Geert Mortier, Jenny Morton, John Pappas, Scott R. Plotkin, Dinel Pond, Kenneth Rosenbaum, Karol Rubin, Laura Russell, Lane S. Rutledge, Veronica Saletti, Rhonda Schonberg, Allison Schreiber, Meredith Seidel, Elizabeth Siqveland, David W. Stockton, Eva Trevisson, Nicole J. Ullrich, Meena Upadhyaya, Rick van Minkelen, Helene Verhelst, Margaret R. Wallace, Yoon-Sim Yap, Elaine Zackai, Jonathan Zonana, Vickie Zurcher, Kathleen Claes, Yolanda Martin, Bruce R. Korf, Eric Legius, Ludwine M. Messiaen The American Journal of Human Genetics Volume 102, Issue 1, Pages 69-87 (January 2018) DOI: 10.1016/j.ajhg.2017.12.001 Copyright © 2017 The Authors Terms and Conditions

Figure 1 Spectrum of Missense Mutations Affecting NF1 Codons 844–848 in the Cohort of 129 Probands and 33 Relatives Shown are 129 probands (A) and 33 relatives (B). Each number in circle corresponds with the total number of individuals heterozygous for a specific mutation. The black dotted lines on the panels present the region 844–848. The figure was prepared using the ProteinPaint application.44 The American Journal of Human Genetics 2018 102, 69-87DOI: (10.1016/j.ajhg.2017.12.001) Copyright © 2017 The Authors Terms and Conditions