A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay
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| Description | scientific article published on 25 January 2017 |
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author: Jennifer E. Posey Jill A Rosenfeld Sujay Kansagra Mohamad A. Mikati Yaping Yang Undiagnosed Diseases Network Michael F. Wangler Stanley F Nelson Nicholas Stong Deeksha Bali Zeynep Coban Akdemir James R. Lupski Fernando Scaglia |
| Publication date | January 25, 2017 |
| Language | English |
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