De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia
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| Description | scientific article published on 25 July 2019 |
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author: Koen Van Gassen Christina Fagerberg Gerarda Cappuccio Clesson E Turner Harmjan Vos Hanneke Haijes Alistair T Pagnamenta Hakon Hakonarson |
| Publication date | July 25, 2019 |
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