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 (VARS1) gene variant, leading to p.T1068M mutation. As in the previously reported VARS1 mutations, t...

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Detalles Bibliográficos
Autores principales: HIZ, Semra, KILIÇ, Seval, BADEMCİ, Güney, KARAKULAK, Tülay, ERDOĞAN, Aybike, ÖZDEN, Burcu, ERESEN, Çiğdem, ERDAL, Esra, YİŞ, Uluç, TEKİN, Mustafa, KARAKÜLAH, Gökhan, KARACA, Ezgi, ÖZTÜRK, Mehmet
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Scientific and Technological Research Council of Turkey (TUBITAK) 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10388123/
https://www.ncbi.nlm.nih.gov/pubmed/37529793
http://dx.doi.org/10.55730/1300-0152.2631

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