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Assessing Utility of Clinical Exome Sequencing in Diagnosis of Rare Idiopathic Neurodevelopmental Disorders in Indian Population.

Neurology India - 1 Jan 2000

Sheth Harsh, Pancholi Dhairya, Bhavsar Riddhi, Mannan Ashraf U, Ganapathy Aparna, Chowdhury Mayank, Shah Sudhir, Solanki Dhawal, Sheth Frenny, Sheth Jayesh

Abstract excerpt

BACKGROUND: Neurological diseases are phenotypically and genotypically heterogeneous. Clinical exome sequencing (CES) has been shown to provide a high diagnostic yield for these disorders in the European population but remains to be demonstrated for the Indian population. OBJECTIVE: The study aimed to understand the utility of clinical exome sequencing for the diagnosis of neurodevelopmental disorders. MATERIALS...

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PMID: 34979677
DOI: 10.4103/0028-3886.333475

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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