Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
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| Description | scientific article published on 01 July 2021 |
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author: Michael T. Zimmermann Tianyun Wang Parul Jayakar Ingo Helbig Pilar Cacheiro Kathryn M Harper Margot A Cousin Renske Oegema Damaris N Lorenzo Benjamin Cogné Jennifer MacKenzie Paul R Mark Joseph T Shieh Erin Torti Evan E. Eichler |
| Publication date | July 1, 2021 |
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