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Title : A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature - Lerat_2017_J.Peripher.Nerv.Syst_22_77 |
Author(s) : Lerat J , Cintas P , Beauvais-Dzugan H , Magdelaine C , Sturtz F , Lia AS |
Ref : J Peripher Nerv Syst , 22 :77 , 2017 |
Abstract : Lerat_2017_J.Peripher.Nerv.Syst_22_77 |
ESTHER : Lerat_2017_J.Peripher.Nerv.Syst_22_77 |
PubMedSearch : Lerat_2017_J.Peripher.Nerv.Syst_22_77 |
PubMedID: 28448692 |
Gene_locus related to this paper: human-ABHD12 |