Varaico: Literature-Extracted Genetic Variants

Gene:PROM1
Variant:p.S443insFs
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PROM1

NM_006017.3:p.S443insFs

Associated Papers

Longitudinal study in autosomal recessive PROM1 inherited retinal disease.

Yates WB et al.

Ophthalmic Genetics, 2025

Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease.

Zernant J et al.

Plos Genetics, 2022

35353811 (PubMed )
Supplement: pgen.1010129.s002.xlsx › Sheet1

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.

Weisschuh N et al.

Plos One, 2016

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