Varaico: Literature-Extracted Genetic Variants

Gene:CHM
Variant:p.Q157fs
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CHM

NM_000390.4:p.Q157fs

Associated Papers

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."