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. Cortés , 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 , Concepción Hernández‐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）
AI 理解论文
溯源树
样例
