Varaico: Literature-Extracted Genetic Variants

Gene:CLPP
Variant:p.S77P
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CLPP

NM_006012.4:p.S77P

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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