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Evaluation of the protein truncation test and mutation detection in the NF1 gene: mutational analysis of 15 known and 40 unknown mutations

Protein Truncation TestGenetic DisorderMedicineGeneticsMutation DetectionNf1 GeneMolecular BiologyGene CharacterizationMolecular GeneticsDisease Gene IdentificationGenomicsMolecular DiagnosticsMutagenesis