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Synofzik, M., Gonzalez, M.A., Lourenco, C.M., Coutelier, M., Haack, T.B., Rebelo, A., et al. (2014) PNPLA6 Mutations Cause Boucher-Neuhäuser and Gordon Holmes Syndromes as Part of a Broad Neurodegenerative Spectrum. Brain, 137, 69-77.
https://doi.org/10.1093/brain/awt326

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