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Trapane, Pamela

https://orcid.org/0000-0001-9201-882X

A5067658607 | I33213144

Mayo Clinic

University of Florida

Citations 2

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

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

Human Mutation | March 2, 2016 | Volume: 37 | Issue: 7 | Pages: 653-660

10.1002/humu.22983 | PMID 26931382