VARS1 mutations associated with neurodevelopmental disorder are located on a short amino acid stretch of the anticodon-binding domain

Majority of 37 human aminoacyl tRNA synthetases have been incriminated in diverse, mostly recessive, genetic diseases. In accordance with this, we uncovered a novel homozygous valyl-tRNA synthetase 1 ( ) gene variant, leading to p.T1068M mutation. As in the previously reported mutations, the affecte...

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Veröffentlicht in:	Turkish journal of biology 2022-01, Vol.46 (6), p.458-464
Hauptverfasser:	Hiz, Semra, Kiliç, Seval, Bademci, Güney, Karakulak, Tülay, Erdoğan, Aybike, Özden, Burcu, Eresen, Çiğdem, Erdal, Esra, Yiş, Uluç, Tekin, Mustafa, Karakülah, Gökhan, Karaca, Ezgi, Öztürk, Mehmet
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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