Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome
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author: Vincent Timmerman, Nathalie Verpoorten, Michaela Auer-Grumbach, Peter De Jonghe, Lionel Van Maldergem, Christian Windpassinger, Joy Irobi, Ines Dierick, Christos Proukakis, Roland Malli, Luciano Merlini
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