Varaico: Literature-Extracted Genetic Variants

Gene:PROM1
Variant:p.L8delFs
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PROM1

NM_006017.3:p.L8delFs

Associated Papers

Longitudinal study in autosomal recessive PROM1 inherited retinal disease.

Yates WB et al.

Ophthalmic Genetics, 2025

Clinical and Molecular Characterization of PROM1-Related Retinal Degeneration.

Cehajic-Kapetanovic J et al.

Jama Network Open, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."