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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CCDC47

Variant:p.V143fs

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CCDC47

NM_020198.3:p.V143fs

hg38:chr17:63764136 CAC>N

Associated Papers

Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.

Hock DH et al.

Genome Medicine, 2025

40400026 (PubMed )

Supplement: 13073_2025_1467_MOESM1_ESM.xlsx › UDP_undiagnosed_cohort

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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."