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Journal article

Roos, A.; Senderek, J.; Cox, D.; Wiessner, M.; Zahedi, R.; Charlton, R.; Barresi, R.; Hathazi, D. and Lochmüller, H. (2017): Autosomal recessive myopathy associated with cataracts and learning difficulties caused by INPP5K mutations: a new syndromic gene linking four overlapping rare recessive neuromuscular disorders. In: Neuromuscular Disorders, Vol. 27: S110-S110

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