Varaico: Literature-Extracted Genetic Variants

Gene:CHM
Variant:p.K248*
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CHM

NM_000390.4:p.K248*

Associated Papers

Nonsense-mediated mRNA decay efficiency varies in choroideremia providing a target to boost small molecule therapeutics.

Sarkar H et al.

Human Molecular Genetics, 2019

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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."