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2023•European Journal of Medical GeneticsRequires access

Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting

Rayabarapu Pranav Chand, Wankhede Vinit, Varsha Vaidya, Anand Subramaniam Iyer, Madhavi Shelke, Shagun Aggarwal, Suvarna Magar, Sumita Danda, Amita Moirangthem, Shubha R. Phadke, Manisha Goyal, Prajnya Ranganath, Mehul Mistri, Parth Shah, Nidhi Shah, Udhaya Kotecha

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Key concepts: Proband, Exome sequencing, Exome, Concordance, Genetic testing, Medicine, Genetics, Mutation

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Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting — Research Paper | ScholarLens