Varaico: Literature-Extracted Genetic Variants

Gene:AARS2
Variant:p.V666A
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AARS2

NM_020745.4:p.V666A

Associated Papers

Recessive, pathogenic AARS1 variants display variable loss-of-function and dominant-negative effects.

Kuo ME et al.

Disease Models & Mechanisms, 2025

40491354 (PubMed )
Supplement: dmm-18-052006-s1.pdf
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