Beauregard-Lacroix Eliane and Pacheco-Cuellar Guillermo and Ajeawung Norbert F. and Tardif Jessica and Dieterich Klaus and Dabir Tabib and Vind-Kezunovic Dina and White, Susan M. and Zádori Dénes and Castiglioni Claudia and Tranebjærg Lisbeth and Tørring Pernille Mathiesen and Blair Ed and Wisniewska Marzena and Camurri Maria Vittoria:
DOORS syndrome and a recurrent truncating ATP6V1B2 variant.
GENETICS IN MEDICINE, 23 (1).
pp. 149-154.
ISSN 1098-3600
(2021)
![[thumbnail of S1098360021025089token7EE2F2D345276691A88AED163A787FA24FE381806E75DED2D8617A92E1BDA02688858159D5026AFF5E6C33069231ACADoriginRegioneu-west-1originCreation20221111085947]](http://publicatio.bibl.u-szeged.hu/style/images/fileicons/text.png) |
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S1098360021025089token7EE2F2D345276691A88AED163A787FA24FE381806E75DED2D8617A92E1BDA02688858159D5026AFF5E6C33069231ACADoriginRegioneu-west-1originCreation20221111085947 - Published Version Download (2MB) |
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| Item Type: | Journal Article | |||||||||||||||
| Szerzők száma: | 22 | |||||||||||||||
| Journal or Publication Title: | GENETICS IN MEDICINE | |||||||||||||||
| Date: | 2021 | |||||||||||||||
| Volume: | 23 | |||||||||||||||
| Number: | 1 | |||||||||||||||
| Page Range: | pp. 149-154 | |||||||||||||||
| ISSN: | 1098-3600 | |||||||||||||||
| Faculty/Unit: | Albert Szent-Györgyi Medical School | |||||||||||||||
| Institution: | University of Szeged (2000-) | |||||||||||||||
| Language: | English | |||||||||||||||
| MTMT rekordazonosító: | 31803911 | |||||||||||||||
| DOI azonosító: | https://doi.org/10.1038/s41436-020-00950-9 | |||||||||||||||
| Date Deposited: | 2022. Nov. 14. 08:50 | |||||||||||||||
| Last Modified: | 2022. Nov. 14. 08:50 | |||||||||||||||
| URI: | http://publicatio.bibl.u-szeged.hu/id/eprint/25517 |
| Web of Science® Times Cited: 24 | View citing articles in Web of Science® |
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