Varaico: Literature-Extracted Genetic Variants

Gene:CHM
Variant:p.T186_C187delFs
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CHM

NM_000390.4:p.T186_C187delFs

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

Whole-exome sequencing identified a novel mutation in CHM of a Chinese family.

Tang H et al.

Journal of Genetics, 2021

Exome sequencing reveals CHM mutations in six families with atypical choroideremia initially diagnosed as retinitis pigmentosa.

Li S et al.

International Journal of Molecular Medicine, 2014

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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."