Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation-dependent probe amplification and genotype-phenotype correlation in 138 Turkish patients

Gunes, NilayYEŞİL, GözdeGeyik, FilizKasap, BusraCelkan, TirajeKebudi, RejinTÜYSÜZ, Beyhan2021-05-112021-05-112021-04-01Gunes N., YEŞİL G., Geyik F., Kasap B., Celkan T., Kebudi R., TÜYSÜZ B., -Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation-dependent probe amplification and genotype-phenotype correlation in 138 Turkish patients-, ANNALS OF HUMAN GENETICS, 2021http://hdl.handle.net/20.500.12645/28863Objective To investigate the variant spectrum and genotype-phenotype correlations in a Turkish cohort with Neurofibromatosis Type-1 (NF1).Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation-dependent probe amplification and genotype-phenotype correlation in 138 Turkish patientsArticleWOS:00064142370000110.1111/ahg.1242233877690