Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.R45Q
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RP1L1

NM_178857.6:p.R45Q

Associated Papers

RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy.

Davidson AE et al.

Human Mutation, 2013

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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."