(Q24336179)

English

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

scientific article

Statements

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction (English)
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Xin Wang
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Antoinette Bernabe Gelot
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Eric M Scott
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Philip L S M Gordts
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Jeffrey D Esko
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Matthew D Buschman
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Seth J Field
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R Koksal Ozgul
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Mahmut Samil Sagıroglu
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Laila Selim
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Iman G Mahmoud
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Sawsan Abdel-Hadi
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Amera El Badawy
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Abdelrahim A Sadek
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Faezeh Mojahedi
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Laila Bastaki
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Ulrich Müller
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Ali Dursun
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May 2015
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47
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528-34
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5
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