Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction
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| Description | scientific article |
| Author/s |
author: Jana Schroth Keith K Vaux Matloob Azam Naiara Akizu Basak Rosti Isabelle Desguerre Esra Dikoglu Samia A Temtamy Ghada M Abdel-Salam Brett Copeland Murat Günel Vincent Cantagrel Gennaro Napolitano Pascale de Lonlay Stacey Gabriel Joseph G Gleeson Ashleigh Schaffer Amira Masri Mona S Aglan Jean-Laurent Casanova Lihadh Al-Gazali Rasim Ozgur Rosti Jennifer L Silhavy Maha Zaki Samira Ismail Hulya Kayserili |
| Publication date | May 2015 |
| Language | English |
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