Varaico: Literature-Extracted Genetic Variants

Gene:CHM
Variant:p.Q63H
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CHM

NM_000390.4:p.Q63H

Associated Papers

Choroideremia Carriers: Dark-Adapted Perimetry and Retinal Structures.

Parmann R et al.

Investigative Ophthalmology & Visual Science, 2022

Spectrum of Disease Severity and Phenotype in Choroideremia Carriers.

Jauregui R et al.

American Journal of Ophthalmology, 2019

Patterns and Intensities of Near-Infrared and Short-Wavelength Fundus Autofluorescence in Choroideremia Probands and Carriers.

Paavo M et al.

Investigative Ophthalmology & Visual 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."