Sequence based identification of genetic variation associated with intellectual disability
Intellectual disability (ID) is a common neurodevelopmental condition, often caused by genetic defects. De novo variation (DNV) is an important cause of ID, especially in severe or syndromic forms of the disorder. Next generation sequencing has been a successful application for finding pathogenic va...
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| Format: | Doctoral Thesis |
| Language: | English |
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Uppsala universitet, Institutionen för immunologi, genetik och patologi
2017
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| Online Access: | http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-326283 http://nbn-resolving.de/urn:isbn:978-91-513-0007-8 |