Varaico: Literature-Extracted Genetic Variants

Gene:CHM
Variant:p.Q525_K526del2
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CHM

NM_000390.4:p.Q525_K526del2

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

CHM mutation spectrum and disease: An update at the time of human therapeutic trials.

Zeitz C et al.

Human Mutation, 2021

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

Han RC et al.

Expert Opinion on Orphan Drugs, 2021

CHM/REP1 Transcript Expression and Loss of Visual Function in Patients Affected by Choroideremia.

Di Iorio V et al.

Investigative Ophthalmology & Visual Science, 2019

Crystals and Fatty Acid Abnormalities Are Not Present in Circulating Cells From Choroideremia Patients.

Radziwon A et al.

Investigative Ophthalmology & Visual Science, 2018

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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."