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Evaluating the Efficacy of a Long-Read Sequencing-Based Approach in the Clinical Diagnosis of Neonatal Congenital Adrenocortical Hyperplasia.

Ruixue Zhang,Di Cui,Chengrong Song,Xiaoping Ma,Na Cai, Yan Zhang, Mei Feng, Yanlin Cao,Libao Chen,Rong Qiang

Clinica Chimica Acta（2024）

Cited 1|Views15
Key words
Long-read sequencing (LRS),Neonatal congenital adrenal hyperplasia (CAH),TNXB,Ehlers-Danlos syndrome (EDS)
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