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A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature.

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Bibliographic Details
Title:	A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature.
Authors:	Lerat, Justine^1,2 justine.lerat@unilim.fr, Cintas, Pascal³, Beauvais‐Dzugan, Hélène^1,4, Magdelaine, Corinne^1,4, Sturtz, Franck^1,4, Lia, Anne‐Sophie^1,4
Source:	Journal of the Peripheral Nervous System. Jun2017, Vol. 22 Issue 2, p77-84. 8p.
Database:	Academic Search Ultimate
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Description
ISSN:	10859489
DOI:	10.1111/jns.12216