Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.A126E
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RDH12

NM_152443.3:p.A126E

Associated Papers

Genetic testing results of retinal dystrophies in a diverse population: impact of race and ethnicity.

Miller C et al.

Ophthalmic Genetics, 2025

39763302 (PubMed )
Supplement: supplement_1.xlsx › Supplementary_Table_1

Retinal Degeneration Associated With Biallelic RDH12 Variants: Longitudinal Evaluation of Retinal Structure and Visual Function in Pediatric Patients.

Aleman TS 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

35994252 (PubMed )
Supplement: iovs-63-9-24_s004.xlsx › Sheet1

Associations Between Fundus Types and Clinical Manifestations in Patients with RDH12 Gene Mutations.

Jin J et al.

Brain Topography, 2022

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."