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Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia
- All authors
- Samra, N.; Jansen, N.S.; Morani, I.; Kakun, R.R.; Zaid, R.; Paperna, T.; Garcia-Dominguez, M.; Viner, Y.; Frankenthal, H.; Shinwell, E.S.; Portnov, I.; Bakry, D.; Shalata, A.; Rootman, M.S.; Kidron, D.; Claessens, L.A.; Wevers, R.A.; Mandel, H.; Vertegaal, A.C.O.; Weiss, K.
- Date
- 2023-07-17
- Journal
- Journal of Medical Genetics
- Volume
- 60
- Pages
- 1133 - 1141