Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.H229Q
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RDH12

NM_152443.3:p.H229Q

Associated Papers

Genetics and Clinical Findings Associated with Early-Onset Myopia and Retinal Detachment in Saudi Arabia.

AlEissa MM et al.

Genes, 2025

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

Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.

Perrault I et al.

American Journal of Human Genetics, 2004

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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."