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Keywords: Diagnostic rate
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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
... of CMT and increase the diagnostic rates when used in conjunction with MLPA. Molecular genetic diagnosis is critical for CMT patients, particularly in light of ongoing research into targeted therapies. Furthermore, presence of undiagnosed cases underscores the likelihood that additional causative genes...
