Varaico: Literature-Extracted Genetic Variants

Gene:CHM
Variant:p.Q157_T158delFs
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CHM

NM_000390.4:p.Q157_T158delFs

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

THE NATURAL HISTORY OF FULL-FIELD STIMULUS THRESHOLD DECLINE IN CHOROIDEREMIA.

Dimopoulos IS et al.

Retina (philadelphia, Pa.), 2018

Microperimetry as an Outcome Measure in Choroideremia Trials: Reproducibility and Beyond.

Dimopoulos IS et al.

Investigative Ophthalmology & Visual Science, 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."