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doi: 10.1111/j.1600-0773.1986.tb02735.x 87 MarreiroNDFisbergMCozzolinoSMF

doi: 10.3390/molecules27020341

Many clinics exclude this group

Sanger sequencing revealed a germline insertion in NF1 exon 2 (c.165_166insCT), causing a frameshift and premature truncation that likely disrupted NF1 function in patient iPSCs (Fig