Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing
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| Description | scientific article published on 09 January 2020 |
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author: Jakub Sikora Veronika Barešová Maxime Cadieux-Dion Jana Sovová Helena Hůlková Viktor Stránecký Patrick Cossette |
| Publication date | January 9, 2020 |
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