Varaico: Literature-Extracted Genetic Variants

Gene:RARS2
Variant:p.K99_T100Splc
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RARS2

NM_020320.5:p.K99_T100Splc

Associated Papers

A Patient with a Novel RARS2 Variant Exhibiting Liver Involvement as a New Clinical Feature and Review of the Literature.

Sevinç S et al.

Molecular Syndromology, 2022

Infantile-onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype.

de Valles-Ibáñez G et al.

Epilepsia Open, 2022

RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?

van Dijk T et al.

Jimd Reports, 2017

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