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@ARTICLE{Lassuthova:1023232,
      author       = {Lassuthova, Petra and Grecmalova, Dagmar and Lischka,
                      Annette and Eggermann, Katja and Kurth, Ingo and Mazanec,
                      Radim},
      title        = {{B}iallelic variants in the neuronal isoform of the {DST}
                      gene as a cause of hereditary sensory neuropathy},
      journal      = {European journal of human genetics},
      volume       = {32},
      number       = {Supplement 2},
      issn         = {1018-4813},
      address      = {Basingstoke},
      publisher    = {Stockton Press},
      reportid     = {RWTH-2025-10588},
      pages        = {EP12.020},
      year         = {2024},
      note         = {e-Poster abstract. - In Artikel: Abstracts from the 57th
                      European Society of Human Genetics (ESHG) Conference:
                      e-Posters. - Seiten 904–1230},
      month         = {Jun},
      date          = {2024-06-01},
      organization  = {57. Conference of the
                       European-Society-of-Human-Genetics,
                       Berlin (Germany), 1 Jun 2024 - 4 Jun
                       2024},
      cin          = {924610},
      ddc          = {610},
      cid          = {$I:(DE-82)525000-2_20140620$},
      typ          = {PUB:(DE-HGF)1 / PUB:(DE-HGF)16 / PUB:(DE-HGF)8},
      UT           = {WOS:001421430500825},
      url          = {https://publications.rwth-aachen.de/record/1023232},
}