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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012
See this aricle in Pubmed

Article Abstract
De novo mutations represent an important cause of intellectual disability; exome sequencing was used as an effective diagnostic strategy for their detection.
 
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exome sequencing
familial
gene
gene mutation
genetic neurologic disorders
genetic testing
intellectual deficit
mental retardation
neurologic disease,diagnoses of
screening
x-linked intellectual deficit
x-linked mental retardation

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