Varaico: Literature-Extracted Genetic Variants

Gene:CHM
Variant:p.S218*
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CHM

NM_000390.4:p.S218*

Associated Papers

Clinical and genetic findings in a Chinese cohort with choroideremia.

Song Y et al.

Eye (london, England), 2023

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

Han RC et al.

Expert Opinion on Orphan Drugs, 2021

Misdiagnosis of X-linked retinitis pigmentosa in a choroideremia patient with heavily pigmented fundi.

Nanda A et al.

Ophthalmic Genetics, 2018

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

Battu R et al.

Indian Journal of Ophthalmology, 2016

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

Multimodal assessment of choroideremia patients defines pre-treatment characteristics.

Seitz IP et al.

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2015

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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."