Varaico: Literature-Extracted Genetic Variants

Gene:CHM
Variant:p.W58*
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CHM

NM_000390.4:p.W58*

Associated Papers

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

Han RC et al.

Expert Opinion on Orphan Drugs, 2021

Spectrum of Disease Severity and Phenotype in Choroideremia Carriers.

Jauregui R et al.

American Journal of Ophthalmology, 2019

The Spectrum of CHM Gene Mutations in Choroideremia and Their Relationship to Clinical Phenotype.

Simunovic MP et al.

Investigative Ophthalmology & Visual Science, 2016

A clinical molecular genetic service for United Kingdom families with choroideraemia.

Ramsden SC et al.

European Journal of Medical Genetics, 2013

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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."