Scientific Publication 

Biallelic Inactivating Variants in the GTPBP2 Gene Cause a Neurodevelopmental Disorder with Severe Intellectual Disability

Author(s): Yüksel, Zafer, MD, Rolfs, Prof. Arndt, MD, Bertoli-Avella, Aida M., MD, Brandau, Oliver, MD, Bauer, Dr. Peter, MD, Marais, Anett, Paknia, Omid, PhD, Garcia-Aznar, Jose Maria, Al-Sannaa, Nouriya, Alameer, S, Al Hakami, F, Grüning, Nana-Maria, Abbasi Moheb, Lia, Alshaikh, N, Marafi, MJ, Al-Mulla, F

Congenital neurological disorders are genetically highly heterogeneous. Rare forms of hereditary neurological disorders are still difficult to be adequately diagnosed.

Congenital neurological disorders are genetically highly heterogeneous. Rare forms of hereditary neurological disorders are still difficult to be adequately diagnosed.


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