Varaico: Literature-Extracted Genetic Variants

Gene:ADH7
Variant:p.T49I
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ADH7

NM_000673.7:p.T49I

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

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

Jin J et al.

Brain Topography, 2022

Expanding the phenotypic spectrum in RDH12-associated retinal disease.

Scott HA et al.

Cold Spring Harbor Molecular Case Studies, 2020

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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."