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EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities

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Description scientific article published on 23 October 2019
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author: Jozef Gécz  Ingrid Scheffer  Barbara Steinborn  Magdalena Badura-Stronka  Anna Winczewska-Wiktor  Samuel Berkovic 

Publication date October 23, 2019
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