Varaico: Literature-Extracted Genetic Variants

Gene:CHM
Variant:p.Q273_V274Splc
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CHM

NM_000390.4:p.Q273_V274Splc

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

Genetic analysis and clinical phenotype of two Indian families with X-linked choroideremia.

Battu R et al.

Indian Journal of Ophthalmology, 2016

Clinical and genetic studies in a family with a new splice-site mutation in the choroideremia gene.

Contestabile MT et al.

Molecular Vision, 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."