Varaico: Literature-Extracted Genetic Variants

Gene:CHM
Variant:p.E535*
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CHM

NM_000390.4:p.E535*

Associated Papers

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

Han RC et al.

Expert Opinion on Orphan Drugs, 2021

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

The functional effect of pathogenic mutations in Rab escort protein 1.

Sergeev YV et al.

Mutation Research, 2009

Mutational analysis of patients with the diagnosis of choroideremia.

McTaggart KE et al.

Human Mutation, 2002

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