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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHM

Variant:p.Y254fs

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CHM

NM_000390.4:p.Y254fs

hg38:chrX:85958920 ATA>N

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

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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."