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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDE12

Variant:p.R41P

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PDE12

NM_177966.7:p.R41P

hg38:chr3:57556501 G>C

Associated Papers

Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease.

Van Haute L et al.

Embo Molecular Medicine, 2025

39567835 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."