Varaico: Literature-Extracted Genetic Variants

Gene:CHM
Variant:p.W58*
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CHM

NM_000390.4:p.W58*

Associated Papers

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."