Varaico: Literature-Extracted Genetic Variants

Gene:PROM1
Variant:p.S760_I761Splc
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PROM1

NM_006017.3:p.S760_I761Splc

Associated Papers

The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.

Michaelides M et al.

Investigative Ophthalmology & Visual Science, 2010

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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."