Associated Papers
QARS1 associated developmental epileptic encephalopathy: first report of a rare homozygous missense variant from Pakistan causing nonepileptic phenotype in a family of seven patients and a comprehensive review of the literature.
Ahmad R et al.
Molecular Biology Reports, 2025
Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.
Dawidziuk M et al.
Genes, 2021
34946966 (PubMed )
Supplement: genes-12-02014-s001.zip › Supplementary_Table_S1_Patients_details.xlsx › Patients
Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy.
Johannesen KM et al.
Neurology. Genetics, 2019
Aminoacyl-tRNA synthetase deficiencies in search of common themes.
Fuchs SA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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