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Mutations in INPPSK, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment
Mutations in INPPSK, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment
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Mutations in INPPSK, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

Wiessner, Manuela ; Roos, Andreas ; Munn, Christopher J ; Viswanathan, Ranjith ; Whyte, Tamieka ; Cox, Dan ; Schoser, Benedikt ; Sewry, Caroline ; Roper, Helen ; Phadke, Rahul ; Bettolo, Chiara Marini ; Barresi, Rita ; Charlton, Richard ; Bönnemann, Carsten G ; Neto, Osorio Abath ; Reed, Umbertina C ; Zanoteli, Edmar ; Moreno, Cristiane Araujo Martins ; Ertl-Wagner, Birgit ; Stucka, Rolf ; Goede, Christian de ; Silva, Tamiris Borges da ; Hathazi, Denisa ; Dell'Aica, Margherita ; Zahedi, Rene P ; Thiele, Simone ; Müller, Juliane ; Kingston, Helen ; Müller, Susanna ; Curtis, Elizabeth ; Walter, Maggie C ; Strom, Tim M ; Straub, Volker ; Bushby, Kate ; Muntoni, Francesco ; Swan, Laura E ; Lochmüller, Hanns ; Senderek, Jan

American Journal of Human Genetics, 2017-01

Ludwig-Maximilians-Universität München

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