Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Vollnhofer Kathrin |
** = Publikationen gelistet in SCI/SSCI/Pubmed
2025
Originalarbeit (Zeitschrift)
** Valentin, K; Kustermann, M; Schneider, MR; Aminfar, H; Vollnhofer, K; Wedrich, A; Stapf, C; Bertich, M; Ritter, M; Mendrina, T; Valcanover, D; Berger, W; Eckhard, M; Sombke, A; Lilja, SV; Paquay, A; Rosensteiner, B; Schmidt, I; Bittner, RE; Georgi, TP; Pemp, B; Schmidt, WM
A recurrent missense variant in the PPIB gene encoding peptidylprolyl isomerase B underlies adult-onset autosomal dominant optic atrophy.
Genet Med. 2025; 101595
Doi: 10.1016/j.gim.2025.101595
PubMed
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