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

Author:

Koczkowska Magdalena,Chen Yunjia,Callens Tom,Gomes Alicia,Sharp Angela,Johnson Sherrell,Hsiao Meng-Chang,Chen Zhenbin,Balasubramanian Meena,Barnett Christopher P.,Becker Troy A.,Ben-Shachar Shay,Bertola Debora R.,Blakeley Jaishri O.,Burkitt-Wright Emma M.M.,Callaway Alison,Crenshaw Melissa,Cunha Karin S.,Cunningham Mitch,D’Agostino Maria D.,Dahan Karin,De Luca Alessandro,Destrée Anne,Dhamija Radhika,Eoli Marica,Evans D. Gareth R.,Galvin-Parton Patricia,George-Abraham Jaya K.,Gripp Karen W.,Guevara-Campos Jose,Hanchard Neil A.,Hernández-Chico Concepcion,Immken LaDonna,Janssens Sandra,Jones Kristi J.,Keena Beth A.,Kochhar Aaina,Liebelt Jan,Martir-Negron Arelis,Mahoney Maurice J.,Maystadt Isabelle,McDougall Carey,McEntagart Meriel,Mendelsohn Nancy,Miller David T.,Mortier Geert,Morton Jenny,Pappas John,Plotkin Scott R.,Pond Dinel,Rosenbaum Kenneth,Rubin Karol,Russell Laura,Rutledge Lane S.,Saletti Veronica,Schonberg Rhonda,Schreiber Allison,Seidel Meredith,Siqveland Elizabeth,Stockton David W.,Trevisson Eva,Ullrich Nicole J.,Upadhyaya Meena,van Minkelen Rick,Verhelst Helene,Wallace Margaret R.,Yap Yoon-Sim,Zackai Elaine,Zonana Jonathan,Zurcher Vickie,Claes Kathleen,Martin Yolanda,Korf Bruce R.,Legius Eric,Messiaen Ludwine M.

Funder

Children’s Tumor Foundation by the Isaac and Sadie Fuchs Genotype-Phenotype Study

Medical Genomics Laboratory at UAB

all Manchester NIHR Biomedical Research Centre as an NIHR Senior investigator

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

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