Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1
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| Description | scientific article published on 26 October 2019 |
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author: John Pappas Kaleb Yohay Karen Gripp Daniela Melis Kathleen Claes Martin Delatycki Eva Trevisson Alessandro De Luca Michael F. Wangler Ludwine Messiaen Louanne Hudgins Magdalena Koczkowska Katharina Wimmer Malgorzata J. M. Nowaczyk |
| Publication date | October 26, 2019 |
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