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Paper Report for: Thimm_2020_J.Peripher.Nerv.Syst__

Name Class
Thimm_2020_J.Peripher.Nerv.Syst__Gene_locushuman-ABHD12
ReferenceTitleGenotype-phenotype correlation in a novel ABHD12 mutation underlying PHARC syndrome
JournalJ Peripher Nerv Syst
Page
Volume
Year2020
Author (8)
Medline32077159
MutationR262X_human-ABHD12
DiseasePHARC Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
AbstractThimm_2020_J.Peripher.Nerv.Syst__
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Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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