Varaico: Literature-Extracted Genetic Variants

Gene:PRPF6
Variant:p.L406F
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PRPF6

NM_012469.4:p.L406F

Associated Papers

Selective degradation of tRNASer(AGY) is the primary driver for mitochondrial seryl-tRNA synthetase-related disease.

Yu T et al.

Nucleic Acids Research, 2022

36350636 (PubMed )
Supplement: gkac1028_supplemental_file.pdf
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