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Wimmer, Katharina

0000-0002-0732-7538

Mayo Clinic

Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.

Citations 1

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

Human Mutation | October 9, 2019 | Volume: 41 | Issue: 1 | Pages: 299-315

10.1002/humu.23929 | PMID 31595648