Varaico: Literature-Extracted Genetic Variants

Gene:CHM
Variant:p.G44*
Back to variants list

CHM

NM_000390.4:p.G44*

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

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

Simunovic MP et al.

Investigative Ophthalmology & Visual Science, 2016

Mutational analysis of patients with the diagnosis of choroideremia.

McTaggart KE et al.

Human Mutation, 2002

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."