Varaico: Literature-Extracted Genetic Variants

Gene:TOMM20
Variant:p.A10S
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TOMM20

NM_014765.3:p.A10S

Associated Papers

Pathological mutations promote proteolysis of mitochondrial tRNA-specific 2-thiouridylase 1 (MTU1) via mitochondrial caseinolytic peptidase (CLPP).

Ahmad RNR et al.

Nucleic Acids Research, 2024

38113276 (PubMed )
Supplement: gkad1197_supplemental_file.pdf
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