Varaico: Literature-Extracted Genetic Variants

Gene:CHM
Variant:p.Q106*
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CHM

NM_000390.4:p.Q106*

Associated Papers

Longitudinal Assessment of Cone Structure, Choriocapillaris, and Retinal Sensitivity in Choroideremia.

Shen LL et al.

Investigative Ophthalmology & Visual Science, 2025

Using Goldmann Visual Field Volume to Track Disease Progression in Choroideremia.

DeLuca AP et al.

Ophthalmology Science, 2023

38025158 (PubMed )
Supplement: mmc1.pdf

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

Han RC et al.

Expert Opinion on Orphan Drugs, 2021

Cone Structure Persists Beyond Margins of Short-Wavelength Autofluorescence in Choroideremia.

Foote KG et al.

Investigative Ophthalmology & Visual Science, 2019

Analysis of a large choroideremia dataset does not suggest a preference for inclusion of certain genotypes in future trials of gene therapy.

Freund PR et al.

Molecular Genetics & Genomic Medicine, 2016

High-resolution images of retinal structure in patients with choroideremia.

Syed R et al.

Investigative Ophthalmology & Visual Science, 2013

The functional effect of pathogenic mutations in Rab escort protein 1.

Sergeev YV et al.

Mutation Research, 2009

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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."