Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction (Q24336179)

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Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction
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    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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    5
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    528-34
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