Varaico: Literature-Extracted Genetic Variants

Gene:CHM
Variant:p.V34D
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CHM

NM_000390.4:p.V34D

Associated Papers

A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report.

Di Giosaffatte N et al.

Genes, 2022

Spectrum of Disease Severity and Phenotype in Choroideremia Carriers.

Jauregui R et al.

American Journal of Ophthalmology, 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."