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Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome

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Description scientific article
Author/s

author: Doris Kretzschmar  Erdal Eren  Bilgin Yüksel  Leman Damla Kotan  Juan Manuel Castellano  Fatih Gürbüz  Ben Hamel  Eda Mengen  Craig A McArdle 

Publication date July 17, 2014
Language English
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