Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.A227_V228Fs
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RDH12

NM_152443.3:p.A227_V228Fs

Associated Papers

Adaptive Optics Retinal Imaging in RDH12-Associated Early Onset Severe Retinal Dystrophy.

Daich Varela M et al.

Investigative Ophthalmology & Visual Science, 2024

Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy.

Wang J et al.

Investigative Ophthalmology & Visual Science, 2022

Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.

Colombo L et al.

Investigative Ophthalmology & Visual Science, 2021

Detailed clinical characterisation, unique features and natural history of autosomal recessive RDH12-associated retinal degeneration.

Fahim AT et al.

The British Journal of Ophthalmology, 2019

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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."