Varaico: Literature-Extracted Genetic Variants

Gene:CSPP1
Variant:p.Q12E
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CSPP1

NM_001382391.1:p.Q12E

Associated Papers

Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.

Dueñas Rey A et al.

Genome Medicine, 2024

38184646 (PubMed )
Supplement: 13073_2023_1277_MOESM1_ESM.xlsx › Table_S11
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