Varaico: Literature-Extracted Genetic Variants

Gene:CHM
Variant:p.S218fs
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CHM

NM_000390.4:p.S218fs

Associated Papers

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

Zeitz C et al.

Human Mutation, 2021

CHM/REP1 Transcript Expression and Loss of Visual Function in Patients Affected by Choroideremia.

Di Iorio V et al.

Investigative Ophthalmology & Visual Science, 2019

Genetic analysis and clinical phenotype of two Indian families with X-linked choroideremia.

Battu R et al.

Indian Journal of Ophthalmology, 2016

Analysis of a large choroideremia dataset does not suggest a preference for inclusion of certain genotypes in future trials of gene therapy.

Freund PR et al.

Molecular Genetics & Genomic Medicine, 2016

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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."