Varaico: Literature-Extracted Genetic Variants

Gene:AARS2
Variant:p.K869delFs
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AARS2

NM_020745.4:p.K869delFs

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

Novel insights into tumorigenesis revealed by molecular analysis of Lynch syndrome cases with multiple colorectal tumors.

Olkinuora A et al.

Frontiers in Oncology, 2024

38725616 (PubMed )
Supplement: Table_2.xlsx › Table_S2

MITO-FIND: A study in 390 patients to determine a diagnostic strategy for mitochondrial disease.

Kerr M et al.

Molecular Genetics and Metabolism, 0

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