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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHM

Variant:p.K258Q

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CHM

NM_000390.4:p.K258Q

hg38:chrX:85958908 T>G

Associated Papers

The effect of PTC124 on choroideremia fibroblasts and iPSC-derived RPE raises considerations for therapy.

Torriano S et al.

Scientific Reports, 2018

29844446 (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."