Varaico: Literature-Extracted Genetic Variants

Gene:QARS1
Variant:p.R523*
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QARS1

NM_005051.3:p.R523*

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

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy.

Johannesen KM et al.

Neurology. Genetics, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."