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An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3

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Description scientific article published on July 17, 2013
Author/s

author: Eléonore Eymard-Pierre  Laetitia Gouas  Philippe Vago  Mathilde Gay-Bellile 

Publication date July 17, 2013
Language English
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https://www.nature.com/articles/ejhg2013141.pdf

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