Associated Papers
RENOVO-NF1 accurately predicts NF1 missense variant pathogenicity.
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Supplement: 40246_2025_803_MOESM3_ESM.xlsx › Sheet_1
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
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Annual Review of Genomics and Human Genetics, 2022
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Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation-dependent probe amplification and genotype-phenotype correlation in 138 Turkish patients.
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Annals of Human Genetics, 2021
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