Varaico: Literature-Extracted Genetic Variants

Gene:CHM
Variant:p.Q63*
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CHM

NM_000390.4:p.Q63*

Associated Papers

Optical coherence tomography-derived biomarkers for disease severity in choroideremia and choroideremia carriers.

Choi HS et al.

Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie, 2025

Is subretinal AAV gene replacement still the only viable treatment option for choroideremia?

Han RC et al.

Expert Opinion on Orphan Drugs, 2021

Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases.

Kim MS et al.

Journal of Korean Medical Science, 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."