Rare compound heterozygous variants in PNKP identified by whole exome sequencing in a German patient with ataxia-oculomotor apraxia 4 and pilocytic astrocytoma

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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 URLhttps://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
Release Date:2022/05/16
Tag:Genetics (clinical); Genetics
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