Varaico: Literature-Extracted Genetic Variants

Gene:ACOT8
Variant:p.P19insFs
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ACOT8

NM_005469.4:p.P19insFs

Associated Papers

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

Quinodoz M et al.

Nature Genetics, 2026

41513982 (PubMed )
Supplement: 41588_2025_2451_MOESM3_ESM.xlsx › S6_samples_for_RNA-seq_studies
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