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 genotypic and phenotypic spectrum of PARS2-related infantile-onset encephalopathy.
Yin X et al.
Journal of Human Genetics, 2018
Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations.
Ciara E et al.
Journal of Human Genetics, 2018
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