Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.T224I
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RDH12

NM_152443.3:p.T224I

Associated Papers

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

Report from a Workshop on Accelerating the Development of Treatments for Inherited Retinal Dystrophies Associated with Mutations in the RDH12 Gene.

Sofia F et al.

Translational Vision Science & Technology, 2020

32855876 (PubMed )
Supplement: tvst-9-8-30_s001.docx

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

Gene panel sequencing in Brazilian patients with retinitis pigmentosa.

Costa KA et al.

International Journal of Retina and Vitreous, 2017

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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."