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Keywords: NDRG1
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Journal Articles
High Diagnostic Yield of Next-Generation Sequencing in Charcot-Marie-Tooth Patients and a Novel Variant in the NDRG1 Gene
Available to PurchaseSubject Area:
Genetics
Müşerref Başdemirci, Özgür Balasar, Onur Bulut, Ebru Tunçez, Fahrettin Duymuş, Büşra Eser Çavdartepe, Levent Şimşek, Halil Çelik
Journal:
Molecular Syndromology
Mol Syndromol (2025)
Published Online: 20 May 2025
... patients. Overall, the diagnostic yield was 65.5% (38/58). Moreover, a novel likely pathogenic variant (c.637C>T) was detected in the NDRG1 gene. The average diagnostic odyssey in diagnosed patients was 5.6 years. Conclusion: Targeted NGS panels are a highly effective tool for the genetic diagnosis...
