Varaico: Literature-Extracted Genetic Variants

Gene:PARS2
Variant:p.R186G
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PARS2

NM_152268.4:p.R186G

Associated Papers

From variant interpretation to structural discovery: A new Zinc-binding domain in PARS2.

Hoebeke C et al.

Mitochondrion, 2026

Intracranial calcifications simulating Aicardi-Goutières syndrome in PARS2-related mitochondrial disease.

Gerard A et al.

American Journal of Medical Genetics. Part A, 2024

Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.

Schlüter A et al.

Neurology, 2022

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