Varaico: Literature-Extracted Genetic Variants

Gene:CHM
Variant:p.Q273_V274Splc
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CHM

NM_000390.4:p.Q273_V274Splc

Associated Papers

CHM mutation spectrum and disease: An update at the time of human therapeutic trials.

Zeitz C et al.

Human Mutation, 2021

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

Han RC et al.

Expert Opinion on Orphan Drugs, 2021

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

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."