Associated Papers
Alanyl-tRNA Synthetase 1 Gene Variants in Hereditary Neuropathy: Genotype and Phenotype Overview.
Setlere S et al.
Neurology. Genetics, 2022
An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids.
Sundal C et al.
Acta Neuropathologica Communications, 2019
31775912 (PubMed )
Supplement: 40478_2019_843_MOESM1_ESM.docx
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-AO-A03R-01A.domain
Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.
Schabhüttl M et al.
Journal of Neurology, 2014
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