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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHM

Variant:p.V524delFs

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CHM

NM_000390.4:p.V524delFs

hg38:chrX:85879003 AC>A

Associated Papers

Optical coherence tomography-derived biomarkers for disease severity in choroideremia and choroideremia carriers.

Choi HS et al.

Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie, 2025

41386279 (PubMed )

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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."