Varaico: Literature-Extracted Genetic Variants

Gene:PARS2
Variant:p.R103*
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PARS2

NM_152268.4:p.R103*

Associated Papers

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

Hoebeke C et al.

Mitochondrion, 2026

Novel mutation in PARS2 revealed highly variable phenotype of developmental and epileptic encephalopathy-75.

Hu X et al.

Gene, 2024

The Mutational Spectrum of Pre- and Post-Neoadjuvant Chemotherapy Triple-Negative Breast Cancers.

Aguilar-Mahecha A et al.

Genes, 2023

38254917 (PubMed )
Supplement: genes-15-00027-s001.zip › Aguilar-Mahecha_et_al_SupplTables_Finalv2.xlsx › Suppl_Table_S2

Four pedigrees with aminoacyl-tRNA synthetase abnormalities.

Okamoto N et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022

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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."