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Human Mutation|October 10, 2019
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1Magdalena Koczkowska, Tom Callens, Yunjia Chen, et al.European Heart Journal|August 12, 2025
Titin-related familial dilated cardiomyopathy: factors associated with disease onsetRenee Johnson, Robert A Fletcher, Stacey Peters, et al.The Lancet. Neurology|June 20, 2014
Frontotemporal dementia and its subtypes: a genome-wide association studyRaffaele Ferrari, Dena G Hernandez, Michael A Nalls, et al.Pageof 29