Varaico: Literature-Extracted Genetic Variants

Gene:RARS2
Variant:p.W241L
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RARS2

NM_020320.5:p.W241L

Associated Papers

Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.

Cavusoglu D et al.

Cerebellum (london, England), 2024

Chromosomal microarray and exome sequencing in unexplained early infantile epileptic encephalopathies in a highly consanguineous population.

Turkdogan D et al.

The International Journal of Neuroscience, 2023

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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."