Associated Papers
Heterozygous Seryl-tRNA Synthetase 1 Variants Cause Charcot-Marie-Tooth Disease.
He J et al.
Annals of Neurology, 2023
Loss of seryl-tRNA synthetase (SARS1) causes complex spastic paraplegia and cellular senescence.
Verdura E et al.
Journal of Medical Genetics, 2022
A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever.
Ravel JM et al.
Human Mutation, 2021
Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability.
Musante L et al.
Human Mutation, 2017
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