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Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia, and premature death

Document Type

Article

Author

Weis, D.; Ciznar, P.; Skalicka, K.; Hrckova, G.; Lin, L.L.; Wang, H.H.; Li, Z.J.; Wang, Z.; Wei, X.; Yang, T.T.; Qi, L.; Kusikova, K.; Wolf, H.M.; Leiss-Piller, A.; Weis, S.; Danisovic, L.; Soltysova, A.; Feichtinger, R.G.; Mayr, J.A.

Source

In: Journal of Clinical Investigation. (Journal of Clinical Investigation, 16 January 2024, 134(2))

Subject

Language

English

ISSN

15588238
00219738

Online Access

Full Text (ProQuest Central) Full Text (Gale General Onefile) Full Text (Gale Academic Onefile) Open Access (EBSCO) Web of Science JCR 저널정보 Scopus Find it@PNU

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