Varaico: Literature-Extracted Genetic Variants

Gene:CHM
Variant:p.R253delFs
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CHM

NM_000390.4:p.R253delFs

Associated Papers

REP1 deficiency causes systemic dysfunction of lipid metabolism and oxidative stress in choroideremia.

Cunha DL et al.

Jci Insight, 2021

33755601 (PubMed )
Supplement: jciinsight-6-146934-s120.pdf

Is subretinal AAV gene replacement still the only viable treatment option for choroideremia?

Han RC et al.

Expert Opinion on Orphan Drugs, 2021

A clinical molecular genetic service for United Kingdom families with choroideraemia.

Ramsden SC et al.

European Journal of Medical Genetics, 2013

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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."