Varaico: Literature-Extracted Genetic Variants

Gene:RDH5
Variant:p.L310delFs
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RDH5

NM_002905.5:p.L310delFs

Associated Papers

RDH5 retinopathy (fundus albipunctatus) with preserved rod function.

Liu X et al.

Retina (philadelphia, Pa.), 2015

Cone abnormalities in fundus albipunctatus associated with RDH5 mutations assessed using adaptive optics scanning laser ophthalmoscopy.

Makiyama Y et al.

American Journal of Ophthalmology, 2014

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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."