Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.K256N
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RDH12

NM_152443.3:p.K256N

Associated Papers

Genetic dissection of non-syndromic retinitis pigmentosa.

Bhardwaj A et al.

Indian Journal of Ophthalmology, 2022

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

Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

Eisenberger T et al.

Plos One, 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."