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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 detention.
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children
exome sequencing
gene mutation
genetic neurologic disorders
genetic screening
intellectual deficit
mental retardation
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x-linked intellectual deficit
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