Clinical Spectrum of Individuals with Pathogenic N F1 Missense Variants Affecting P.met1149, P.arg1276, and P.lys1423: Genotype–phenotype Study in Neurofibromatosis Type 1
Magdalena Koczkowska,Tom Callens,Yunjia Chen,Alicia Gomes,Alesha D. Hicks,Angela Sharp,Eric Johns, Kim Armfield Uhas,Linlea Armstrong,Katherine Armstrong Bosanko,Dusica Babovic-Vuksanovic,Laura Baker,Donald G. Basel,Mario Bengala,James T. Bennett,Chelsea Chambers, Lola K. Clarkson,Maurizio Clementi,Fanny M. Cortes,Mitch Cunningham,M. Daniela D'Agostino,Martin B. Delatycki,Maria C. Digilio,Laura Dosa,Silvia Esposito,Stephanie Fox,Mary-Louise Freckmann,Christine Fauth,Teresa Giugliano,Sandra Giustini,Allison Goetsch,Yael Goldberg,Robert S. Greenwood,Cristin Griffis,Karen W. Gripp,Punita Gupta,Eric Haan,Rachel K. Hachen, Tamara L. Haygarth,Concepcion Hernandez-Chico,Katelyn Hodge,Robert J. Hopkin,Louanne Hudgins,Sandra Janssens,Kory Keller,Geraldine Kelly-Mancuso,Aaina Kochhar,Bruce R. Korf,Andrea M. Lewis,Jan Liebelt,Angie Lichty,Robert H. Listernick,Michael J. Lyons,Isabelle Maystadt,Mayra Martinez Ojeda,Carey McDougall, Lesley K. McGregor,Daniela Melis,Nancy Mendelsohn,Malgorzata J. M. Nowaczyk,June Ortenberg,Karin Panzer,John G. Pappas,Mary Ella Pierpont,Giulio Piluso,Valentina Pinna,Eniko K. Pivnick,Dinel A. Pond,Cynthia M. Powell,Caleb Rogers,Noa Ruhrman Shahar,S. Lane Rutledge,Veronica Saletti,Sarah A. Sandaradura,Claudia Santoro,Ulrich A. Schatz,Allison Schreiber,Daryl A. Scott,Elizabeth A. Sellars,Ruth Sheffer,Elizabeth Siqveland,John M. Slopis,Rosemarie Smith,Alberto Spalice,David W. Stockton,Haley Streff,Amy Theos,Gail E. Tomlinson,Grace Tran,Pamela L. Trapane,Eva Trevisson,Nicole J. Ullrich,Jenneke Van den Ende,Samantha A. Schrier Vergano,Stephanie E. Wallace,Michael F. Wangler,David D. Weaver,Kaleb H. Yohay,Elaine Zackai,Jonathan Zonana, Vickie Zurcher,Kathleen B. M. Claes,Marica Eoli,Yolanda Martin,Katharina Wimmer,Alessandro De Luca,Eric Legius,Ludwine M. Messiaen
Human mutation（2019）
引用 80|浏览45
关键词
genotype-phenotype correlation,NF1,Arg1276,Lys1423,Met1149
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