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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACOT9

Variant:p.G312R

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ACOT9

NM_001033583.3:p.G312R

hg38:chrX:23705567 C>G

Associated Papers

Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes.

Jaeckle Santos LJ et al.

Human Genetics, 2008

18404279 (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."