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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FDXR

Variant:p.V43delFs

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FDXR

NM_024417.5:p.V43delFs

hg38:chr17:74872082 AC>A

Associated Papers

Spectrum of novel ATP2A2 mutations in patients with Darier's disease.

Sakuntabhai A et al.

Human Molecular Genetics, 1999

10441323 (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."