Varaico: Literature-Extracted Genetic Variants

Gene:CHM
Variant:p.E164_N165delFs
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CHM

NM_000390.4:p.E164_N165delFs

Associated Papers

Expression of Rab Prenylation Pathway Genes and Relation to Disease Progression in Choroideremia.

Fry LE et al.

Translational Vision Science & Technology, 2021

34254989 (PubMed )
Supplement: tvst-10-8-12_s001.pdf

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

Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial.

MacLaren RE et al.

Lancet (london, England), 2014

24439297 (PubMed )
Supplement: mmc1.pdf

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."