Varaico: Literature-Extracted Genetic Variants

Gene:PROM1
Variant:p.S290I
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PROM1

NM_006017.3:p.S290I

Associated Papers

Identification of novel PROM1 mutations responsible for autosomal recessive maculopathy with rod-cone dystrophy.

Liang J et al.

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2019

An intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy.

Eidinger O et al.

Molecular Vision, 2015

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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."