Varaico: Literature-Extracted Genetic Variants

Gene:CHM
Variant:p.E177*
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CHM

NM_000390.4:p.E177*

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

Genetic defects of CHM and visual acuity outcome in 24 choroideremia patients from 16 Japanese families.

Hayashi T et al.

Scientific Reports, 2020

The protein truncation test (PTT) as a method of detection for choroideremia mutations.

Beaufrère L et al.

Experimental Eye Research, 1997

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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."