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Details for article 13 of 17 found articles
| Title: |
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation |
| Author: |
van Loggerenberg, Warren Sowlati-Hashjin, Shahin Weile, Jochen Hamilton, Rayna Chawla, Aditya Sheykhkarimli, Dayag Gebbia, Marinella Kishore, Nishka Frésard, Laure Mustajoki, Sami Pischik, Elena Di Pierro, Elena Barbaro, Michela Floderus, Ylva Schmitt, Caroline Gouya, Laurent Colavin, Alexandre Nussbaum, Robert Friesema, Edith C.H. Kauppinen, Raili To-Figueras, Jordi Aarsand, Aasne K. Desnick, Robert J. Garton, Michael Roth, Frederick P. |
| Appeared in: |
The American journal of human genetics |
| Paging: | Volume 110 () nr. 10 pages 1769-1786 |
| Year: |
2023 |
| Contents: | |
| Publisher: |
The Authors |
| Source file: |
Elektronische Wetenschappelijke Tijdschriften |
Details for article 13 of 17 found articles
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