Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ13
Variant:p.I160N
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KCNJ13

NM_002242.4:p.I160N

Associated Papers

Structure-function analysis of CNGA3-associated achromatopsia patient variants complements clinical genomics in pathogenicity determination.

Rasmussen DK et al.

Orphanet Journal of Rare Diseases, 2025

40448196 (PubMed )
Supplement: 13023_2025_3792_MOESM1_ESM.pdf
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