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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
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Human Mutation | October 9, 2019 | Volume: 41 | Issue: 1 | Pages: 299-315
Update from the 2013 international neurofibromatosis conference
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