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Paper Report for: Lerat_2017_J.Peripher.Nerv.Syst_22_77

Reference

Title: A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature
Lerat J, Cintas P, Beauvais-Dzugan H, Magdelaine C, Sturtz F, Lia AS
Ref: J Peripher Nerv Syst, 22:77, 2017 : PubMed

        



Related information

Gene_Locus| human-ABHD12
Mutation | N127DfsX23_human-ABHD12,



Citations formats

Lerat J, Cintas P, Beauvais-Dzugan H, Magdelaine C, Sturtz F, Lia AS (2017)
A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature
J Peripher Nerv Syst 22: 77-84

Lerat J, Cintas P, Beauvais-Dzugan H, Magdelaine C, Sturtz F, Lia AS (2017)
J Peripher Nerv Syst 22: 77-84



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