Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities
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| Description | scientific article published on March 2014 |
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author: Alexander Hoischen Joris A Veltman Katja Lohmann Gabriele Gillessen-Kaesbach Irina Hüning Christian Gilissen |
| Publication date | March 1, 2014 |
| Language | English |
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