Varaico: Literature-Extracted Genetic Variants

Gene:PROM1
Variant:p.L8R
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PROM1

NM_006017.3:p.L8R

Associated Papers

Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.

Schlottmann PG et al.

Npj Genomic Medicine, 2023

Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.

Cremers FPM et al.

Progress in Retinal and Eye Research, 2020

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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."