Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases
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| Description | scientific article published on 09 December 2019 |
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author: Tahsin Stefan Barakat Jennefer N Kohler Wilfred F J van IJcken |
| Publication date | December 9, 2019 |
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