Varaico: Literature-Extracted Genetic Variants

Gene:COG5
Variant:p.R157delFs
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COG5

NM_006348.5:p.R157delFs

Associated Papers

Clinical utility of genome sequencing in rare diseases: lessons from a single-center study of 1,452 Korean families.

Lee S et al.

Npj Genomic Medicine, 2025

41354729 (PubMed )
Supplement: 41525_2025_538_MOESM1_ESM.pdf
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