Varaico: Literature-Extracted Genetic Variants

Gene:CHM
Variant:p.S28*
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CHM

NM_000390.4:p.S28*

Associated Papers

Novel CHM mutations in Polish patients with choroideremia - an orphan disease with close perspective of treatment.

Skorczyk-Werner A et al.

Orphanet Journal of Rare Diseases, 2018

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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."