Rare compound heterozygous variants in PNKP identified by whole exome sequencing in a German patient with ataxia-oculomotor apraxia 4 and pilocytic astrocytoma
| Author: | C. Scholz, Monika M. GolasORCiDGND, Ruthild G. Weber, C. Hartmann, Ulrich Lehmann, F. Sahm, Gunnar Schmidt, Bernd Auber, M. Sturm, Brigitte Schlegelberger, Thomas Illig, Doris Steinemann, W. Hofmann |
|---|---|
| Frontdoor URL | https://opus.bibliothek.uni-augsburg.de/opus4/95047 |
| ISSN: | 0009-9163OPAC |
| Parent Title (English): | Clinical Genetics |
| Publisher: | Wiley |
| Type: | Article |
| Language: | English |
| Year of first Publication: | 2018 |
| Publishing Institution: | Universität Augsburg |
| Release Date: | 2022/05/16 |
| Tag: | Genetics; Genetics (clinical) |
| Volume: | 94 |
| Issue: | 1 |
| First Page: | 185 |
| Last Page: | 186 |
| DOI: | https://doi.org/10.1111/cge.13216 |
| Institutes: | Medizinische Fakultät |
| Medizinische Fakultät / Universitätsklinikum | |
| Medizinische Fakultät / Lehrstuhl für Humangenetik |
