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Elisabeth Frei
Elisabeth Frei
Medical University of Vienna
Genetics
Exome sequencing
Antiparallel (biochemistry)
Biology
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A novel proline substitution (Arg201Pro) in alpha helix 8 of TMEM98 causes autosomal dominant nanophthalmos-4, closed angle glaucoma and attenuated visual acuity.
2021
Experimental Eye Research
Martin Koenighofer
Thomas Parzefall
Alexandra Frohne
Elisabeth Frei
Sebastian M. Waldstein
Goran Mitulovic
Christian Schoefer
Klemens Frei
Trevor Lucas
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Incomplete penetrance of a novel SDHD variation causing familial head and neck paraganglioma.
2021
Clinical Otolaryngology
Martin Koenighofer
Thomas Parzefall
Alexandra Frohne
Elisabeth Frei
Christian Schoefer
Franco Laccone
Patricia Feil
Klemens Frei
Trevor Lucas
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