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Assessing utility of clinical exome sequencing in diagnosis of rare idiopathic neurodevelopmental disorders in Indian population

2019-06-06

Abstract excerpt

<title>Abstract</title> <p>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. <h4>Methods:</h4> A cohort of 19 idiopathic patients with neurological phenotypes, primarily intellectual disability...

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Literature Corpus work
ee0619ff-179c-5da7-a210-9bb34ae575f5
DOI
10.21203/rs.2.10139/v1
Open publication

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Assessing utility of clinical exome sequencing in diagnosis of rare idiopathic neurodevelopmental disorders in Indian populationDOI 10.21203/rs.2.10139/v1
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