Paper

Tree Display

AceDB Schema

XML Display

Feedback

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
AuthorThimm A
Rahal A
Schoen U
Abicht A
Klebe S
Kleinschnitz C
Hagenacker T
Stettner M
Medline32077159
MutationR262X_human-ABHD12
DiseasePHARC Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
AbstractThimm_2020_J.Peripher.Nerv.Syst__

Send your questions or comments to :
Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
For technical information about these pages see:
ESTHER Home Page and ACEDB Home Page
AcePerl Lincoln Stein Home Page
webmaster

Acknowledgements and disclaimer