Varaico: Literature-Extracted Genetic Variants

Gene:CHM
Variant:p.R214delFs
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CHM

NM_000390.4:p.R214delFs

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

Optical coherence tomography (OCT) features of cystoid spaces in choroideremia (CHM).

Murro V et al.

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2019

A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice.

Sanchez-Alcudia R et al.

Plos One, 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."