Varaico: Literature-Extracted Genetic Variants

Gene:PRPF6
Variant:p.T30M
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PRPF6

NM_012469.4:p.T30M

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

Mutation analysis of adenomas and carcinomas of the colon: Early and late drivers.

Wolff RK et al.

Genes, Chromosomes & Cancer, 2018

29575536 (PubMed )
Supplement: GCC-57-366-s004.xlsx › MSI
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