Varaico: Literature-Extracted Genetic Variants

Gene:PARS2
Variant:p.P156R
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PARS2

NM_152268.4:p.P156R

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

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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."