Varaico: Literature-Extracted Genetic Variants

Gene:CHM
Variant:p.Y504*
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CHM

NM_000390.4:p.Y504*

Associated Papers

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

Genetic analysis of choroideremia families in the Australian population.

McLaren TL et al.

Clinical & Experimental Ophthalmology, 2015

Loss-of-function mutations in Rab escort protein 1 (REP-1) affect intracellular transport in fibroblasts and monocytes of choroideremia patients.

Strunnikova NV et al.

Plos One, 2009

Mutational analysis of patients with the diagnosis of choroideremia.

McTaggart KE et al.

Human Mutation, 2002

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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."