Associated Papers
Functional Testing of Human Disease Missense Variants in Caenorhabditis elegans by Targeting COQ2 Variants.
Lee GY et al.
Kidney International Reports, 2025
41141493 (PubMed )
Supplement: mmc1.pdf
AARS2-Related Leukodystrophy: a Case Report and Literature Review.
Zhang X et al.
Cerebellum (london, England), 2023
Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene.
Peragallo JH et al.
Ophthalmic Genetics, 0
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