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Journal description
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Details for article 2 of 16 found articles
| Title: |
Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation |
| Author: |
Polla, Daniel L. Edmondson, Andrew C. Duvet, Sandrine March, Michael E. Sousa, Ana Berta Lehman, Anna Niyazov, Dmitriy van Dijk, Fleur Demirdas, Serwet van Slegtenhorst, Marjon A. Kievit, Anneke J.A. Schulz, Celine Armstrong, Linlea Bi, Xin Rader, Daniel J. Izumi, Kosuke Zackai, Elaine H. de Franco, Elisa Jorge, Paula Huffels, Sophie C. Hommersom, Marina Ellard, Sian Lefeber, Dirk J. Santani, Avni Hand, Nicholas J. van Bokhoven, Hans He, Miao de Brouwer, Arjan P.M. |
| Appeared in: |
The American journal of human genetics |
| Paging: | Volume 108 () nr. 7 pages 1342-1349 |
| Year: |
2021 |
| Contents: | |
| Publisher: |
American Society of Human Genetics |
| Source file: |
Elektronische Wetenschappelijke Tijdschriften |
Details for article 2 of 16 found articles
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