2020•Molecular Biology ReportsRequires access

A novel variant in C5ORF42 gene is associated with Joubert syndrome

Rajab Mardani, Eskandar Taghizadeh, Forough Taheri, Mohammadali Raeisi, Mohammad Reza Karimzadeh, Daryoush Rostami, Gordon A. Ferns, Majid Ghayour‐Mobarhan

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Key concepts: Sanger sequencing, Proband, Genetics, Joubert syndrome, Biology, DNA sequencing, Gene, Genetic heterogeneity

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A novel variant in C5ORF42 gene is associated with Joubert syndrome — Research Paper | ScholarLens