(Q48799175)
Statements
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Ataxia meets chorioretinal dystrophy and hypogonadism: Boucher-Neuhäuser syndrome due to PNPLA6 mutations (English)
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Ludger Schöls
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Matthis Synofzik
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Christoph Kernstock
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Tobias B Haack
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30 April 2014
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86
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5
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580-581
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Identifiers
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