(Q38192015)
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Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities (English)
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Gabriele Gillessen-Kaesbach
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Alexander Hoischen
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Katja Lohmann
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Anna-Lena Baasch
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Joerg Klepper
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1 March 2014
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55
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4
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e25-9
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Identifiers
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