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Impact of Deep Phenotyping: High Diagnostic Yield in a Diverse Pediatric Population of 172 Patients Through Clinical Whole-Genome Sequencing at a Single Center

Ozlem Akgun-Dogan, Ecenur Tuc Bengur,Beril Ay, Gulsah Sebnem Ozkose, Emre Kar,Fuat Baris Bengur, Aybike S. Bulut, Ayca Yigit, Eylul Aydin,Fatma Nisa Esen,Ozkan Ozdemir,Ahmet Yesilyurt,Yasemin Alanay

FRONTIERS IN GENETICS(2024)

Cited 0|Views19
Key words
whole-genome sequencing,first tier,diagnostic yield,undiagnosed patients,pediatric geneticist
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