Varaico: Literature-Extracted Genetic Variants

Gene:CHM
Variant:p.S39Splc
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CHM

NM_000390.4:p.S39Splc

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

Novel mutation in the choroideremia gene and multi-Mendelian phenotypes in Spanish families.

de Castro-Miró M et al.

The British Journal of Ophthalmology, 2018

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."