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Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain

Document Type

Article

Author

Averdunk, L.; Surowy, H.; Lüdecke, H.-J.; Drechsler, M.; Wieczorek, D.; Al-Thihli, K.; Al-Maawali, A.; Yigit, G.; Smorag, L.; Li, Y.; Wollnik, B.; Al Hallak, B.; Altmüller, J.; Guthoff, T.; Wallot, M.; Nürnberg, P.; Jamra, R.A.

Source

In: Clinical Genetics. (Clinical Genetics, April 2023, 103(4):484-491)

Subject

Language

English

ISSN

13990004
00099163

Online Access

Full Text (Wiley Journals) Full Text (Wiley-DB) Web of Science JCR 저널정보 Scopus Find it@PNU

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