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Clinical Genetics|December 15, 2017
Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansionA T G Chiu, S L C Pei, C C Y Mak, et al.NPJ Genomic Medicine|November 16, 2021
Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseqR Koster, R D Brandão, D Tserpelis, et al.Pageof 5