Varaico: Literature-Extracted Genetic Variants

Gene:AARS2
Variant:p.K145_E146Splc
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AARS2

NM_020745.4:p.K145_E146Splc

Associated Papers

Improved genomic characterization of a clinically heterogeneous pediatric cohort with WGS vs. WES.

Brashear AM et al.

Scientific Reports, 2025

41152280 (PubMed )
Supplement: 41598_2025_21421_MOESM1_ESM.xlsx › Sheet1

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
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