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An extremely severe phenotype attributed to WDR81 nonsense mutations.

作者信息

Cappuccio Gerarda, Pinelli Michele, Torella Annalaura, Vitiello Giuseppina, D'Amico Alessandra, Alagia Marianna, Del Giudice Ennio, Nigro Vincenzo, Brunetti-Pierri Nicola

机构信息

Department  of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.

Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.

出版信息

Ann Neurol. 2017 Oct;82(4):650-651. doi: 10.1002/ana.25058.

DOI:10.1002/ana.25058
PMID:28972664
Abstract
摘要

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1
An extremely severe phenotype attributed to WDR81 nonsense mutations.一种归因于WDR81无义突变的极其严重的表型。
Ann Neurol. 2017 Oct;82(4):650-651. doi: 10.1002/ana.25058.
2
Reply to "an extremely severe phenotype due to WDR81 nonsense mutations".对“WDR81基因无义突变导致的极其严重的表型”的回复
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Correction: An extremely severe phenotype attributed to WDR81 nonsense mutations.更正：一种归因于WDR81无义突变的极其严重的表型。
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